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                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.",
        "journal": "Genomics",
        "date": "2003",
        "authors": "Mok A, Cao H, Hegele RA",
        "reference": {
            "type": "PubMed",
            "id": "12573255",
            "url": "https://pubmed.ncbi.nlm.nih.gov/12573255"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P15586-1",
                "protein_name": "N-acetylglucosamine-6-sulfatase",
                "gene_name": "GNS",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
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                    {
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                        "id": "P15586",
                        "url": "https://www.uniprot.org/uniprotkb/P15586"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P15586"
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                    },
                    {
                        "id": "rs119461974",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs119461974#frequency_tab"
                    },
                    {
                        "id": "rs119461974",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs119461974"
                    },
                    {
                        "id": "12573255",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/12573255"
                    },
                    {
                        "id": "6450420",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/6450420"
                    },
                    {
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs119461974"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 355,
                "end_pos": 355,
                "subjects_tested": "1704",
                "subjects_positive": "4",
                "frequency": "0.2",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, sulfatase).",
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                "chr_pos": "64737039",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R355",
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                            {
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                            {
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                                "description": ""
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                                "url": "https://www.omim.org/entry/252940",
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                                "description": "Mucopolysaccharidosis 3D"
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        "title": "Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.",
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        "title": "Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.",
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                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    }
]
