{
    "title": "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.",
    "journal": "Nat. Genet.",
    "date": "1999",
    "authors": "Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G",
    "reference": {
        "type": "PubMed",
        "id": "10080183",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10080183"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "Q9UHI5-1",
            "protein_name": "Large neutral amino acids transporter small subunit 2",
            "gene_name": "SLC7A8",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9UM01-1",
            "protein_name": "Y+L amino acid transporter 1",
            "gene_name": "SLC7A7",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P08195-1",
            "protein_name": "Amino acid transporter heavy chain SLC3A2",
            "gene_name": "SLC3A2",
            "tax_name": "Human"
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "Q9UHI5",
                    "url": "https://www.uniprot.org/uniprot/Q9UHI5"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "record_id": "pubmed.10080183",
    "abstract": "",
    "glycosylation": [],
    "mutagenesis": [],
    "snv": [],
    "phosphorylation": [],
    "glycation": [],
    "section_stats": [
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