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"o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "SURF1-associated Leigh syndrome: a case series and novel mutations.", "journal": "Human mutation", "date": "2012", "authors": "Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ", "reference": { "type": "PubMed", "id": "22488715", "url": "https://pubmed.ncbi.nlm.nih.gov/22488715" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15526-1", "protein_name": "Surfeit locus protein 1", "gene_name": "SURF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15526", "url": "https://www.uniprot.org/uniprotkb/Q15526" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.22488715", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": 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"Li Y, Wen S, Li D, Xie J, Wei X, Li X, Liu Y, Fang H, Yang Y, Lyu J", "reference": { "type": "PubMed", "id": "29933018", "url": "https://pubmed.ncbi.nlm.nih.gov/29933018" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q15526-1", "protein_name": "Surfeit locus protein 1", "gene_name": "SURF1", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15526", "url": "https://www.uniprot.org/uniprotkb/Q15526" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.29933018", "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" ] }, { "table_id": "referenced_glycans", "table_stats": 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Walton K, Buiting K, Davis A, Breese C, Freedman R, Leonard S", "reference": { "type": "PubMed", "id": "9782083", "url": "https://pubmed.ncbi.nlm.nih.gov/9782083" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q494W8-1", "protein_name": "CHRNA7-FAM7A fusion protein", "gene_name": "CHRFAM7A", "tax_name": "Human" }, { "uniprot_canonical_ac": "P36544-1", "protein_name": "Neuronal acetylcholine receptor subunit alpha-7", "gene_name": "CHRNA7", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q494W8", "url": "https://www.uniprot.org/uniprotkb/Q494W8" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9782083", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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Hien S, Schaible T, Smeitink JA, Wevers RA, Wortmann SB, Rodenburg RJ", "reference": { "type": "PubMed", "id": "23343605", "url": "https://pubmed.ncbi.nlm.nih.gov/23343605" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96H96-1", "protein_name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "gene_name": "COQ2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96H96", "url": "https://www.uniprot.org/uniprotkb/Q96H96" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23343605", "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" ] }, { "table_id": 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Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Durr A, Brice A, Filla A, Klockgether T, Wullner U, Nicholson G, Gilman S, Shults CW, Tanner CM, Kukull WA, Lee VM, Masliah E, Low PA, Sandroni P, Trojanowski JQ, Ozelius L, Foroud T, Tsuji S", "reference": { "type": "PubMed", "id": "23758206", "url": "https://pubmed.ncbi.nlm.nih.gov/23758206" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q96H96-1", "protein_name": "4-hydroxybenzoate polyprenyltransferase, mitochondrial", "gene_name": "COQ2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q96H96", "url": "https://www.uniprot.org/uniprotkb/Q96H96" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.23758206", "abstract": "", 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