Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.
- NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_assertion description "[Together with recent findings of BRAF, MEK1, and MEK2 mutations in CFC syndrome and HRAS mutations in Costello syndrome, another clinically related disorder, it has now become clear that Noonan-like features (short stature, relative macrocephaly, facial anomalies, learning difficulties) that are found in these three related disorders are a result of constitutive activation of the Ras-Raf-extracellular signal-regulated and mitogen-activated protein kinase pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.
- NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_assertion evidence source_evidence_literature NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.
- NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_assertion SIO_000772 17211612 NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.
- NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_assertion wasDerivedFrom befree-20140225 NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.
- NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_assertion wasGeneratedBy ECO_0000203 NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP297292.RAPheBID-_d1_Pwek_Osmh30u5qGhZPfpts-nJiHzUiLI130_provenance.