Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.
- NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_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." NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.
- NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_assertion evidence source_evidence_literature NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.
- NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_assertion SIO_000772 17211612 NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.
- NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_assertion wasDerivedFrom befree-20140225 NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.
- NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_assertion wasGeneratedBy ECO_0000203 NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP724595.RA0CGmH9tP3RJ6q7EGOgklZAl6CfmDdX6AlzbRtdNFfWM130_provenance.