[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.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE