[In addition, genetic studies have identified gain-of-function mutations in the CASR gene, leading to a greater understanding of the pathogenesis of Bartter's syndrome, an inherited nephropathy that results in deficiency of sodium and chloride absorption.]. 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