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Fischer C, Toliat MR, Fritz P, Zanger UM, Schwab M, Fromm MF, Nurnberg P, Wojnowski L, Closs EI, Lang T", "reference": { "type": "PubMed", "id": "18300232", "url": "https://pubmed.ncbi.nlm.nih.gov/18300232" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O15439-1", "protein_name": "ATP-binding cassette sub-family C member 4", "gene_name": "ABCC4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15439", "url": "https://www.uniprot.org/uniprotkb/O15439" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.18300232", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.", "journal": "Molecular genetics and metabolism", "date": "2007", "authors": "Peretz H, Naamati MS, Levartovsky D, Lagziel A, Shani E, Horn I, Shalev H, Landau D", "reference": { "type": "PubMed", "id": "17368066", "url": "https://pubmed.ncbi.nlm.nih.gov/17368066" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96EN8-1", "protein_name": "Molybdenum cofactor sulfurase", "gene_name": "MOCOS", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96EN8", "url": "https://www.uniprot.org/uniprotkb/Q96EN8" } ], "common_name": "Human", "glygen_name": 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with nasopharyngeal cancer.", "journal": "Molecular and cellular probes", "date": "2004", "authors": "Duh FM, Fivash M, Moody M, Li Lung M, Guo X, Stanbridge E, Dean M, Voevoda M, Hu LF, Kashuba V, Zabarovsky ER, Qian CN, Godbole S, Tean Teh B, Lerman MI", "reference": { "type": "PubMed", "id": "15036368", "url": "https://pubmed.ncbi.nlm.nih.gov/15036368" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q93015-1", "protein_name": "N-alpha-acetyltransferase 80", "gene_name": "NAA80", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q93015", "url": "https://www.uniprot.org/uniprotkb/Q93015" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15036368", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.", "journal": "Genomics", "date": "1999", "authors": "Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, Miller W, Touchman JW, Jin L, Sullivan SL, Sellers JR, Camper SA, Lloyd RV, Kachar B, Friedman TB, Fridell RA", "reference": { "type": "PubMed", "id": "10552926", "url": "https://pubmed.ncbi.nlm.nih.gov/10552926" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKN7-1", "protein_name": "Unconventional myosin-XV", "gene_name": "MYO15A", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q9QZZ4-1", "protein_name": "Unconventional myosin-XV", "gene_name": "Myo15a", "tax_name": "Mouse" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKN7", "url": "https://www.uniprot.org/uniprotkb/Q9UKN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], 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"2001", "authors": "Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB", "reference": { "type": "PubMed", "id": "11735029", "url": "https://pubmed.ncbi.nlm.nih.gov/11735029" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9UKN7-1", "protein_name": "Unconventional myosin-XV", "gene_name": "MYO15A", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9UKN7", "url": "https://www.uniprot.org/uniprotkb/Q9UKN7" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11735029", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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