[1047L in leads KCNH2 to a functional impairment of the KCNH2 channel, which may contribute to the higher incidence of Torsades de Pointes in 1047L carriers when challenged with a channel blocker.]. 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