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U.S.A.", "date": "1990", "authors": "Hostikka S L, Eddy R L, Byers M G, H\u00f6yhty\u00e4 M, Shows T B, Tryggvason K", "reference": { "type": "PubMed", "id": "1689491", "url": "https://pubmed.ncbi.nlm.nih.gov/1689491" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29400", "url": "https://www.uniprot.org/uniprotkb/P29400" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.1689491", "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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the normal allele.", "journal": "The Journal of clinical investigation", "date": "1995-04", "authors": "Guo C, Van Damme B, Vanrenterghem Y, Devriendt K, Cassiman J J, Marynen P", "reference": { "type": "PubMed", "id": "7706490", "url": "https://pubmed.ncbi.nlm.nih.gov/7706490" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29400", "url": "https://www.uniprot.org/uniprotkb/P29400" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7706490", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ 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suspected of having Alport syndrome.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "1996-05", "authors": "Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin C L, Netzer K O, Weber M, Reeders S, Gr\u00f6nhagen-Riska C, Neumann H P, Trembath R, Tryggvason K", "reference": { "type": "PubMed", "id": "8738805", "url": "https://pubmed.ncbi.nlm.nih.gov/8738805" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29400", "url": "https://www.uniprot.org/uniprotkb/P29400" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8738805", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], 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genetics", "date": "1996-12", "authors": "Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Desch\u00eanes G, Gr\u00fcnfeld J P, Broyer M, Gubler M C, Antignac C", "reference": { "type": "PubMed", "id": "8940267", "url": "https://pubmed.ncbi.nlm.nih.gov/8940267" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P29400-1", "protein_name": "Collagen alpha-5(IV) chain", "gene_name": "COL4A5", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P29400", "url": "https://www.uniprot.org/uniprotkb/P29400" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.8940267", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], 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phenotypic spectrum and a founder mutation in southern Chinese.", "journal": "NPJ genomic medicine", "date": "2019", "authors": "Yu Mullin Ho-Chung, Tsang Mandy Ho-Yin, Lai Sophie, Ho Matthew Sai-Pong, Tse Donald M L, Willis Brooke, Kwong Anna Ka-Yee, Chou Yen-Yin, Lin Shuan-Pei, Quinzii Catarina M, Hwu Wuh-Liang, Chien Yin-Hsiu, Kuo Pao-Lin, Chan Victor Chi-Man, Tsoi Cheung, Chong Shuk-Ching, Rodenburg Richard J T, Smeitink Jan, Mak Christopher Chun-Yu, Yeung Kit-San, Fung Jasmine Lee-Fong, Lam Wendy, Hui Joannie, Lee Ni-Chung, Fung Cheuk-Wing, Chung Brian Hon-Yin", "reference": { "type": "PubMed", "id": "31396399", "url": "https://pubmed.ncbi.nlm.nih.gov/31396399" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q9Y3A0-1", "protein_name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial", "gene_name": "COQ4", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": 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[] } ] }, { "title": "DEAH-box polypeptide 32 promotes hepatocellular carcinoma progression via activating the beta-catenin pathway.", "journal": "Annals of medicine", "date": "2021", "authors": "Hu X, Yuan G, Li Q, Huang J, Cheng X, Chen J", "reference": { "type": "PubMed", "id": "33729094", "url": "https://pubmed.ncbi.nlm.nih.gov/33729094" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q92520-1", "protein_name": "Protein FAM3C", "gene_name": "FAM3C", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q7L7V1-1", "protein_name": "Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32", "gene_name": "DHX32", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92520", "url": "https://www.uniprot.org/uniprotkb/Q92520" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.33729094", "abstract": "", 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