Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_assertion> ?p ?o ?g. }
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- NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_assertion type Assertion NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_head.
- NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_assertion description "[We have identified five different mutations in RAF1 in ten individuals with Noonan syndrome; those with any of four mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy (HCM), whereas affected individuals with mutations leading to changes in the CR3 domain did not.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_provenance.
- NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_assertion evidence source_evidence_literature NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_provenance.
- NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_assertion SIO_000772 17603482 NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_provenance.
- NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_assertion wasDerivedFrom befree-20140225 NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_provenance.
- NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_assertion wasGeneratedBy ECO_0000203 NP507162.RARWDZuN9kgYW8md6Bp8N62P1x9pOGa3Pd4eZ6QAqq0gE130_provenance.