. . . . . . . . . . . . "[Mendelian mutations, such as those in the low-density lipoprotein (LDL) receptor (LDLR) that result in familial hypercholesterolemia, are rare and have powerful phenotypic effects.]. 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 . "2016-05-13T12:49:53+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .