[Five novel missense DES mutations including the first localized to the highly conserved 1A domain were detected in 6 subjects (1.4%) Mutations in the 1A helical domain, as well as the 2B rod domain, are capable of causing a dilated cardiomyopathy phenotype ]. 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