{
    "title": "Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.",
    "journal": "Nature genetics",
    "date": "1999",
    "authors": "Feliubadalo L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernandez E, Estevez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacin M",
    "reference": {
        "type": "PubMed",
        "id": "10471498",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10471498"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
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            "uniprot_canonical_ac": "P82251-1",
            "protein_name": "b(0,+)-type amino acid transporter 1",
            "gene_name": "SLC7A9",
            "tax_name": "Human"
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P82251",
                    "url": "https://www.uniprot.org/uniprot/P82251"
                }
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            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
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    "record_id": "pubmed.10471498",
    "abstract": "",
    "glycosylation": [],
    "mutagenesis": [],
    "snv": [],
    "phosphorylation": [],
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