. . . . . . . "[16 novel mutations identified in COL4A3, COL4A4 & COL4A5 genes in Slovenian families with Alport syndrome (ATS) & benign familial hematuria; 12 mutations found in COL4A5 gene in ATS patients (9 missense, 1 splice site, 1 frameshift & 1 nonsense mutation)]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:39+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .