Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_assertion> ?p ?o ?g. }
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- NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_assertion type Assertion NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_head.
- NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_assertion description "[Here, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding to 3% of all affected individuals) and two of six individuals with LEOPARD syndrome without PTPN11 mutations have missense mutations in RAF1, which encodes a serine-threonine kinase that activates MEK1 and MEK2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_provenance.
- NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_assertion evidence source_evidence_literature NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_provenance.
- NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_assertion SIO_000772 17603483 NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_provenance.
- NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_assertion wasDerivedFrom befree-2016 NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_provenance.
- NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_assertion wasGeneratedBy ECO_0000203 NP617888.RAc6HPrj90JPazUaKxljyL4Prug5ugG0WbX73cXwKqVLI130_provenance.