. . . . . . . . . . . . "[The defective gene causing autosomal recessive hypercholesterolemia (ARH) encodes ARH, a clathrin-associated adaptor protein required for low-density-lipoprotein receptor endocytosis in most cells but not in skin fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:48:37+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .