Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1420141.RAPBi7I1iDdDGWRP6XBuorMZZOGLNBewDB25uHgZ6Ftps#assertion> ?p ?o ?g. }
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- assertion description "[Gain-of-function mutations in PCSK9 associated with high LDL cholesterol and premature cardiovascular disease have been causally implicated in the pathophysiology of autosomal-dominant familial hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 26503748 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.