[This mutant isoenzyme maps to human chromosome region 7q and has an amino acid substitution (arginine for proline)/is involved in the etiology of autosomal dominant retinitis pigmentosa in humans.]. 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