{
    "title": "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.",
    "journal": "Nat. Genet.",
    "date": "1999",
    "authors": "Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C",
    "reference": {
        "type": "PubMed",
        "id": "10192385",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10192385"
    },
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            "protein_name": "Otoferlin",
            "gene_name": "OTOF",
            "tax_name": "Human"
        },
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            "uniprot_canonical_ac": "Q9ESF1-1",
            "protein_name": "Otoferlin",
            "gene_name": "Otof",
            "tax_name": "Mouse"
        }
    ],
    "species": [
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            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
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                    "database": "UniProtKB",
                    "id": "Q9HC10",
                    "url": "https://www.uniprot.org/uniprot/Q9HC10"
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            "glygen_name": "Human",
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    "abstract": "",
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