Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_assertion> ?p ?o ?g. }
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- NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_assertion type Assertion NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_head.
- NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_assertion description "[The naturally occurring human lipoprotein lipase S447X variant (LPLS447X) exemplifies a gain-of function mutation with significant benefits including decreased plasma triglycerides (TG), increased high-density lipoprotein (HDL) cholesterol, and reduced risk of coronary artery disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.
- NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_assertion evidence source_evidence_literature NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.
- NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_assertion SIO_000772 16002740 NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.
- NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_assertion wasDerivedFrom befree-2016 NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.
- NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_assertion wasGeneratedBy ECO_0000203 NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.