. . . . . . . . . . . . "[The cysteine to tyrosine substitution in the NC1 domain of the alpha5 (IV) collagen chain in this family leads to a mild form of Alport syndrome, including absence of extra-renal features.]. 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 . "2014-10-02T12:33:20+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .