Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_assertion> ?p ?o ?g. }
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- NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_assertion type Assertion NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_head.
- NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_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." NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_provenance.
- NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_assertion evidence source_evidence_literature NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_provenance.
- NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_assertion SIO_000772 17211612 NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_provenance.
- NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_assertion wasDerivedFrom befree-20140225 NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_provenance.
- NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_assertion wasGeneratedBy ECO_0000203 NP192618.RA_YW_KYt94qyGqXMIKMuNshcjx_UM5aNMe79bgXpN7ME130_provenance.