Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.
- befree-2016 importedOn "2016-02-19" NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.
- NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_assertion wasGeneratedBy ECO_0000203 NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.
- NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_assertion wasDerivedFrom befree-2016 NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.
- NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_assertion SIO_000772 16921267 NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.
- NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_assertion evidence source_evidence_literature NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.
- NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_assertion description "[We and others recently discovered novel germline KRAS mutations in individuals diagnosed with Noonan or cardio-facio-cutanous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, heart defects, and other developmental abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_provenance.