Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.
- NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_assertion description "[Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.
- NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_assertion evidence source_evidence_curated NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.
- NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_assertion SIO_000772 17603483 NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.
- NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_assertion wasDerivedFrom ctd_human-2016 NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.
- NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_assertion wasGeneratedBy ECO_0000218 NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP20138.RAKC2BVHzM5gX4GV-oCFyokuteL-zinCkk80VqqkKujAY130_provenance.