Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_assertion type Assertion NP565230.RAvLV-XbaG6fabMFEFzS7w7FBZS2fuOJQvskzJsDmb4wE130_head.
- 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.