Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.
- NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_assertion description "[We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.
- NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_assertion evidence source_evidence_literature NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.
- NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_assertion SIO_000772 17603482 NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.
- NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_assertion wasDerivedFrom befree-2016 NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.
- NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_assertion wasGeneratedBy ECO_0000203 NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.
- befree-2016 importedOn "2016-02-19" NP617876.RAoc0u8hmUfVcOj--tw2WkpG_kDjtys-Et7HXicX-ECtk130_provenance.