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[] } ] }, { "title": "A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.", "journal": "Eur. J. Hum. 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"authors": "Updegraff BL, Zhou X, Guo Y, Padanad MS, Chen PH, Yang C, Sudderth J, Rodriguez-Tirado C, Girard L, Minna JD, Mishra P, DeBerardinis RJ, O'Donnell KA", "reference": { "type": "PubMed", "id": "30463017", "url": "https://pubmed.ncbi.nlm.nih.gov/30463017" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q86T26-1", "protein_name": "Transmembrane protease serine 11B", "gene_name": "TMPRSS11B", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q86T26", "url": "https://www.uniprot.org/uniprotkb/Q86T26" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30463017", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Jan, Igland Jannicke, Giil Lasse M, Eriksson Sture, Hallmans G\u00f6ran, L\u00f6vheim Hugo, Lopatko Lindman Karin, Trupp Miles, Forsgren Lars, Werge Thomas, Banasik Karina, Brunak S\u00f8ren, Ullum Henrik, Frikke-Schmidt Ruth, Ostrowski Sisse R, , Didriksen Maria, S\u00f8rensen Erik, Simonsen Anja H, Nielsen J\u00f8rgen E, Waldemar Gunhild, Pedersen Ole B, Erikstrup Christian, Knowlton Kirk U, Nadauld Lincoln D, Stefansson Kari,", "reference": { "type": "PubMed", "id": "38899702", "url": "https://pubmed.ncbi.nlm.nih.gov/38899702" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9NZC2-1", "protein_name": "Triggering receptor expressed on myeloid cells 2", "gene_name": "TREM2", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9NZC2", "url": "https://www.uniprot.org/uniprotkb/Q9NZC2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" 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"2018", "authors": "Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P", "reference": { "type": "PubMed", "id": "30452684", "url": "https://pubmed.ncbi.nlm.nih.gov/30452684" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y584-1", "protein_name": "Mitochondrial import inner membrane translocase subunit Tim22", "gene_name": "TIMM22", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q9Y584", "url": "https://www.uniprot.org/uniprotkb/Q9Y584" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30452684", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", 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[] } ] }, { "title": "Identification and functional characterization of DR6, a novel death domain-containing TNF receptor.", "journal": "FEBS letters", "date": "1998", "authors": "Pan G, Bauer JH, Haridas V, Wang S, Liu D, Yu G, Vincenz C, Aggarwal BB, Ni J, Dixit VM", "reference": { "type": "PubMed", "id": "9714541", "url": "https://pubmed.ncbi.nlm.nih.gov/9714541" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "O75509-1", "protein_name": "Tumor necrosis factor receptor superfamily member 21", "gene_name": "TNFRSF21", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75509", "url": "https://www.uniprot.org/uniprotkb/O75509" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9714541", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": 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