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        "authors": "Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML",
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    },
    {
        "title": "Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.",
        "journal": "American journal of medical genetics. Part A",
        "date": "2015-07",
        "authors": "Pozo Mar\u00eda Gonz\u00e1lez-Del, Bravo-Gil Nereida, M\u00e9ndez-Vidal Cristina, Montero-de-Espinosa Ignacio, Mill\u00e1n Jos\u00e9 M, Dopazo Joaqu\u00edn, Borrego Salud, Anti\u00f1olo Guillermo",
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            "type": "PubMed",
            "id": "25823529",
            "url": "https://pubmed.ncbi.nlm.nih.gov/25823529"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P35913-1",
                "protein_name": "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta",
                "gene_name": "PDE6B",
                "tax_name": "Human"
            }
        ],
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            {
                "name": "Homo sapiens",
                "taxid": 9606,
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                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
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            {
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                    },
                    {
                        "id": "rs201541131",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201541131"
                    },
                    {
                        "id": "rs201541131",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201541131"
                    },
                    {
                        "id": "rs201541131",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs201541131#frequency_tab"
                    },
                    {
                        "id": "rs201541131",
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                        "id": "12525556",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12525556"
                    },
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                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17267005"
                    },
                    {
                        "id": "25823529",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/25823529"
                    },
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                        "id": "29472945",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/29472945"
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                ],
                "glycoeffect": [
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                "start_pos": 560,
                "end_pos": 560,
                "subjects_tested": "3601",
                "subjects_positive": "3",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NWR->NWC).",
                "chr_id": "4",
                "chr_pos": "662197",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R560",
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                                "description": ""
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                                "url": "https://disease-ontology.org/term/DOID:1793",
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