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- source_evidence_literature type ECO_0000212 NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP502952.RAvjc062w-r2SoBVOPV5niZ2mRh6Sd92EneRVWjmCtMgA130_provenance.