. . . . . . . "[As a result, PCSK9 gain-of-function mutations are causatively associated with familial hypercholesterolemia, whereas PCSK9 loss-of-function mutations are associated with very low LDL-C levels and a reduced cardiovascular risk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:19:12+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .