Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1419705.RAm6gJWOcIPKkvKuWmpgO9i4jci5zEPrlduz92KIoQ3LQ#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion SIO_000772 12730697 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause autosomal dominant hypercholesterolemia]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.