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thrombosis", "date": "2006", "authors": "Quelin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, de Mazancourt P", "reference": { "type": "PubMed", "id": "16607084", "url": "https://pubmed.ncbi.nlm.nih.gov/16607084" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P03951-1", "protein_name": "Coagulation factor XI", "gene_name": "F11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprotkb/P03951" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.16607084", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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Chem.", "date": "2022", "authors": "Smith Leticia Barion, Duge Emma, Valenzuela-Le\u00f3n Paola Carolina, Brooks Steven, Martin-Martin Ines, Ackerman Hans, Calvo Eric", "reference": { "type": "PubMed", "id": "35460690", "url": "https://pubmed.ncbi.nlm.nih.gov/35460690" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P03951-1", "protein_name": "Coagulation factor XI", "gene_name": "F11", "tax_name": "Human" }, { "uniprot_canonical_ac": "P00748-1", "protein_name": "Coagulation factor XII", "gene_name": "F12", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprotkb/P03951" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.35460690", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Six point mutations that cause factor XI deficiency.", "journal": "Blood", "date": "1995", "authors": "Pugh RE, McVey JH, Tuddenham EG, Hancock JF", "reference": { "type": "PubMed", "id": "7888672", "url": "https://pubmed.ncbi.nlm.nih.gov/7888672" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P03951-1", "protein_name": "Coagulation factor XI", "gene_name": "F11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprotkb/P03951" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7888672", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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Chem.", "date": "1998", "authors": "Hsu T C, Shore S K, Seshsmma T, Bagasra O, Walsh P N", "reference": { "type": "PubMed", "id": "9593722", "url": "https://pubmed.ncbi.nlm.nih.gov/9593722" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P03951-1", "protein_name": "Coagulation factor XI", "gene_name": "F11", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P03951", "url": "https://www.uniprot.org/uniprotkb/P03951" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.9593722", "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", 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[] } ] }, { "title": "Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.", "journal": "PloS one", "date": "2018", "authors": "McSherry M, Masih KE, Elcioglu NH, Celik P, Balci O, Cengiz FB, Nunez D, Sineni CJ, Seyhan S, Kocaoglu D, Guo S, Duman D, Bademci G, Tekin M", "reference": { "type": "PubMed", "id": "30500859", "url": "https://pubmed.ncbi.nlm.nih.gov/30500859" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "A6NL82-1", "protein_name": "Cilia- and flagella-associated protein 144", "gene_name": "CFAP144", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NL82", "url": "https://www.uniprot.org/uniprotkb/A6NL82" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.30500859", "abstract": "", 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"count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses.", "journal": "Thrombosis and haemostasis", "date": "2002", "authors": "Liu ML, Nakaya S, Thompson AR", "reference": { "type": "PubMed", "id": "11858487", "url": "https://pubmed.ncbi.nlm.nih.gov/11858487" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P00451-1", "protein_name": "Coagulation factor VIII", "gene_name": "F8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprotkb/P00451" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11858487", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "Hemophilia A mutations within the factor VIII A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy.", "journal": "Thrombosis and haemostasis", "date": "2002", "authors": "Hakeos WH, Miao H, Sirachainan N, Kemball-Cook G, Saenko EL, Kaufman RJ, Pipe SW", "reference": { "type": "PubMed", "id": "12428094", "url": "https://pubmed.ncbi.nlm.nih.gov/12428094" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P00451-1", "protein_name": "Coagulation factor VIII", "gene_name": "F8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprotkb/P00451" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12428094", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], 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mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2003", "authors": "Habart D, Kalabova D, Novotny M, Vorlova Z", "reference": { "type": "PubMed", "id": "12871415", "url": "https://pubmed.ncbi.nlm.nih.gov/12871415" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P00451-1", "protein_name": "Coagulation factor VIII", "gene_name": "F8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprotkb/P00451" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.12871415", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { 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"authors": "Nafa K, Baudis M, Deburgrave N, Bardin JM, Sultan Y, Kaplan JC, Delpech M", "reference": { "type": "PubMed", "id": "1301194", "url": "https://pubmed.ncbi.nlm.nih.gov/1301194" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P00451-1", "protein_name": "Coagulation factor VIII", "gene_name": "F8", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P00451", "url": "https://www.uniprot.org/uniprotkb/P00451" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1301194", "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", 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