Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.
- NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_assertion description "[Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.
- NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_assertion evidence source_evidence_curated NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.
- NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_assertion SIO_000772 17603483 NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.
- NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_assertion wasDerivedFrom ctd_human-20150221 NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.
- NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_assertion wasGeneratedBy ECO_0000218 NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP28121.RA1PRLoWWCDy-YqOUY2ZiT8lRZninwXZVHESOilew0yHE130_provenance.