Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_assertion> ?p ?o ?g. }
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- NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_assertion type Assertion NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_head.
- NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_assertion description "[We and others have recently discovered germline mutations in the KRAS gene in individuals diagnosed with Noonan and cardio-facio-cutaneous (CFC) syndrome, two clinically overlapping disorders characterized by short stature, distinct facial anomalies, heart defects, and other abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_provenance.
- NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_assertion evidence source_evidence_literature NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_provenance.
- NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_assertion SIO_000772 17211612 NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_provenance.
- NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_assertion wasDerivedFrom befree-2016 NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_provenance.
- NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_assertion wasGeneratedBy ECO_0000203 NP587913.RAzk30rvkjRt2-g3sYyEAb2wILa-2ItkCJt3uToFGC7f8130_provenance.