Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.
- NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_assertion description "[Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.
- NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_assertion evidence source_evidence_literature NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.
- NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_assertion SIO_000772 17603483 NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.
- NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_assertion wasDerivedFrom befree-20140225 NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.
- NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_assertion wasGeneratedBy ECO_0000203 NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP154491.RAR_sa9L4KIRLgD_s8Cak0dmjVVx6WlEPjFnHxViUeDWc130_provenance.