[
    {
        "title": "A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.",
        "journal": "Neuromuscular disorders : NMD",
        "date": "1999",
        "authors": "Bruno C, DiRocco M, Lamba LD, Bado M, Marino C, Tsujino S, Shanske S, Stella G, Minetti C, van Diggelen OP, DiMauro S",
        "reference": {
            "type": "PubMed",
            "id": "10545044",
            "url": "https://pubmed.ncbi.nlm.nih.gov/10545044"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q04446-1",
                "protein_name": "1,4-alpha-glucan-branching enzyme",
                "gene_name": "GBE1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q04446",
                        "url": "https://www.uniprot.org/uniprotkb/Q04446"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs1575782181",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575782181"
                    },
                    {
                        "id": "10545044",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10545044"
                    },
                    {
                        "id": "15452297",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15452297"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 13,
                "end_pos": 13,
                "sequence_org": "D",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "3",
                "chr_pos": "81761480",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "D13",
                "keywords": [
                    "ebi",
                    "germline"
                ],
                "filter_code": "000100000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "Q04446-1"
            },
            {
                "evidence": [
                    {
                        "id": "Q04446",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q04446"
                    },
                    {
                        "id": "rs774619760",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774619760"
                    },
                    {
                        "id": "rs774619760",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774619760"
                    },
                    {
                        "id": "rs774619760",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs774619760"
                    },
                    {
                        "id": "rs80338673",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80338673"
                    },
                    {
                        "id": "rs80338673",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80338673"
                    },
                    {
                        "id": "rs80338673",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs80338673"
                    },
                    {
                        "id": "10545044",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10545044"
                    },
                    {
                        "id": "10762170",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10762170"
                    },
                    {
                        "id": "15452297",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15452297"
                    },
                    {
                        "id": "rs80338673",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs80338673"
                    },
                    {
                        "id": "rs774619760",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774619760"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 524,
                "end_pos": 524,
                "subjects_tested": "1906",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "3",
                "chr_pos": "81577972",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R524",
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                            "url": "https://disease-ontology.org/term/DOID:11054",
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                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
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                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
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                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "tumour of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
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                                "resource": "MONDO",
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                                "id": "MONDO:0001187",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of the urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant tumour of urinary bladder",
                                "description": ""
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                            {
                                "id": "MONDO:0001187",
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                                "description": ""
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                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "malignant urinary bladder tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder malignant tumour",
                                "description": ""
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                            {
                                "id": "MIM:109800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/109800",
                                "name": "Bladder cancer",
                                "description": "Bladder cancer"
                            }
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                        "unlinked_id_list": [],
                        "evidence": [
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11054"
                            }
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                                "resource": "Disease Ontology",
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                                "description": ""
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
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                                "description": ""
                            }
                        ],
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                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
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                    },
                    {
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                        "recommended_name": {
                            "id": "DOID:2750",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2750",
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                            "description": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "Amylopectinosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "Branching-transferase deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "Glycogen storage disease, type IV",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases."
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen Disease (GSD IV)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GBE1 glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "amylopectinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease caused by mutation in GBE1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease IV",
                                "description": ""
                            },
                            {
                                "id": "MIM:232500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
                                "name": "Glycogen storage disease 4",
                                "description": "Glycogen storage disease 4"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
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        "title": "Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).",
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        "authors": "Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C",
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                "subjects_positive": "2",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "3",
                "chr_pos": "81577973",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R524",
                "disease": [
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                        "disease_id": "DOID:9256",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
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                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large intestine tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large bowel",
                                "description": ""
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of the large intestine",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large bowel",
                                "description": ""
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "CRC",
                                "description": ""
                            },
                            {
                                "id": "MIM:114500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114500",
                                "name": "Colorectal cancer",
                                "description": "Colorectal cancer"
                            }
                        ],
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                        ]
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
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                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3149",
                            "DOID:3451"
                        ],
                        "evidence": [
                            {
                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2750",
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                            "id": "DOID:2750",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2750",
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                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "Branching-transferase deficiency glycogenosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "Glycogen storage disease, type IV",
                                "description": ""
                            },
                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "brancher deficiency glycogenosis",
                                "description": ""
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                            {
                                "id": "DOID:2750",
                                "resource": "Disease Ontology",
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                                "name": "deficiency of 1,4-alpha-glucan branching enzyme",
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                            {
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2750",
                                "name": "Glycogen storage disease 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": "Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases."
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen Disease (GSD IV)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "Andersen's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GBE1 glycogen storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "amylopectinosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease caused by mutation in GBE1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type 4",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease type IV",
                                "description": ""
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                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis due to glycogen branching enzyme deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogenosis type IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD IV",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "GSD4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009292",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009292",
                                "name": "glycogen storage disease IV",
                                "description": ""
                            },
                            {
                                "id": "MIM:232500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232500",
                                "name": "Glycogen storage disease 4",
                                "description": "Glycogen storage disease 4"
                            }
                        ],
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                                "id": "232500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/232500"
                            },
                            {
                                "id": "2750",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2750"
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                        ]
                    }
                ],
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                ],
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            {
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                    },
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                    {
                        "id": "rs80338673",
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                    {
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                    },
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                        "id": "rs80338673",
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                    },
                    {
                        "id": "rs774619760",
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs774619760"
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                ],
                "glycoeffect": [],
                "start_pos": 524,
                "end_pos": 524,
                "subjects_tested": "1906",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "3",
                "chr_pos": "81577972",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R524",
                "disease": [
                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11054",
                            "name": "urinary bladder cancer",
                            "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                        },
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                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "bladder cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:11054",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11054",
                                "name": "tumor of the bladder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "urinary bladder cancer",
                                "description": "A primary or metastatic malignant neoplasm involving the bladder."
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                                "name": "tumour of the bladder",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "bladder cancer, somatic",
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                            {
                                "id": "MONDO:0001187",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                                "name": "cancer of urinary bladder",
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                                "id": "MONDO:0001187",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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                                "id": "MONDO:0001187",
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        "title": "Null mutations and lethal congenital form of glycogen storage disease type IV.",
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        "authors": "Assereto Stefania, van Diggelen Otto P, Diogo Luisa, Morava Eva, Cassandrini Denise, Carreira Isabel, de Boode Willem-Pieter, Dilling Jildau, Garcia Paula, Henriques Margarida, Rebelo Olinda, ter Laak Henk, Minetti Carlo, Bruno Claudio",
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        "title": "Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.",
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        "authors": "Mochel Fanny, Schiffmann Raphael, Steenweg Marjan E, Akman Hasan O, Wallace Mary, Sedel Fr\u00e9d\u00e9ric, Lafor\u00eat Pascal, Levy Richard, Powers J Michael, Demeret Sophie, Maisonobe Thierry, Froissart Roseline, Da Nobrega Bruno Barcelos, Fogel Brent L, Natowicz Marvin R, Lubetzki Catherine, Durr Alexandra, Brice Alexis, Rosenmann Hanna, Barash Varda, Kakhlon Or, Gomori J Moshe, van der Knaap Marjo S, Lossos Alexander",
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                "end_pos": 147,
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        "title": "A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.",
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    {
        "title": "SPAP2, an Ig family receptor containing both ITIMs and ITAMs.",
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