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                "sort_fields": []
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                "table_stats": [
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                        "field": "total",
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                    {
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                        "count": 0
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                        "count": 0
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                        "count": 0
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                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
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        ]
    },
    {
        "title": "Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.",
        "journal": "Clinical genetics",
        "date": "2003",
        "authors": "Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y",
        "reference": {
            "type": "PubMed",
            "id": "14616765",
            "url": "https://pubmed.ncbi.nlm.nih.gov/14616765"
        },
        "referenced_glycans": [],
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            {
                "uniprot_canonical_ac": "P19224-1",
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                "tax_name": "Human"
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            {
                "uniprot_canonical_ac": "Q9HAW7-1",
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            },
            {
                "uniprot_canonical_ac": "Q9HAW9-1",
                "protein_name": "UDP-glucuronosyltransferase 1A8",
                "gene_name": "UGT1A8",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O60656-1",
                "protein_name": "UDP-glucuronosyltransferase 1A9",
                "gene_name": "UGT1A9",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P22309-1",
                "protein_name": "UDP-glucuronosyltransferase 1A1",
                "gene_name": "UGT1A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35504-1",
                "protein_name": "UDP-glucuronosyltransferase 1A5",
                "gene_name": "UGT1A5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9HAW8-1",
                "protein_name": "UDP-glucuronosyltransferase 1A10",
                "gene_name": "UGT1A10",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P22310-1",
                "protein_name": "UDP-glucuronosyltransferase 1A4",
                "gene_name": "UGT1A4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35503-1",
                "protein_name": "UDP-glucuronosyltransferase 1A3",
                "gene_name": "UGT1A3",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P19224",
                        "url": "https://www.uniprot.org/uniprotkb/P19224"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs72551349",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72551349"
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                    {
                        "id": "rs72551349",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs72551349"
                    },
                    {
                        "id": "rs72551349",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs72551349#frequency_tab"
                    },
                    {
                        "id": "rs72551349",
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs72551349"
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                    {
                        "id": "14616765",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/14616765"
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                        "id": "1692835",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1692835"
                    },
                    {
                        "id": "8276413",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8276413"
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                ],
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                "end_pos": 340,
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                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
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                "chr_pos": "233767873",
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                            "description": "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)."
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                            {
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                                "description": "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)."
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                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
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                                "id": "MONDO:0021020",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "hyperbilirubinemia type 1",
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/143500",
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                        ],
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                ],
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                    {
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                                "id": "DOID:3803",
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                            {
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                            {
                                "id": "MONDO:0021020",
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                                "description": ""
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                            {
                                "id": "MONDO:0021020",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
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                            {
                                "id": "MONDO:0021020",
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                            {
                                "id": "MONDO:0021020",
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                            {
                                "id": "MONDO:0021020",
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                                "id": "MONDO:0021020",
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                    {
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                            {
                                "id": "DOID:2739",
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        "title": "Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.",
        "journal": "Genomics",
        "date": "1993",
        "authors": "Moghrabi N, Clarke DJ, Boxer M, Burchell B",
        "reference": {
            "type": "PubMed",
            "id": "8276413",
            "url": "https://pubmed.ncbi.nlm.nih.gov/8276413"
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        "referenced_proteins": [
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                "uniprot_canonical_ac": "Q9HAW9-1",
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                "tax_name": "Human"
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                "tax_name": "Human"
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                "gene_name": "UGT1A1",
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            {
                "uniprot_canonical_ac": "P35504-1",
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                "gene_name": "UGT1A5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9HAW8-1",
                "protein_name": "UDP-glucuronosyltransferase 1A10",
                "gene_name": "UGT1A10",
                "tax_name": "Human"
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            {
                "uniprot_canonical_ac": "P22310-1",
                "protein_name": "UDP-glucuronosyltransferase 1A4",
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                "tax_name": "Human"
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            {
                "uniprot_canonical_ac": "P35503-1",
                "protein_name": "UDP-glucuronosyltransferase 1A3",
                "gene_name": "UGT1A3",
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            {
                "name": "Homo sapiens",
                "taxid": 9606,
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                    {
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            }
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