Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_assertion> ?p ?o ?g. }
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- NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_assertion type Assertion NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_head.
- NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_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." NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_provenance.
- NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_assertion evidence source_evidence_literature NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_provenance.
- NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_assertion SIO_000772 26503748 NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_provenance.
- NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_assertion wasDerivedFrom befree-2016 NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_provenance.
- NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_assertion wasGeneratedBy ECO_0000203 NP1295228.RAtykoEyNFCsXGiZf3g4sJutwaLAxubSVKF3JTZ3fO3VU130_provenance.