Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_assertion> ?p ?o ?g. }
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- NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_assertion type Assertion NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_head.
- NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_assertion description "[Study identified 5 mutations in RAF1 in 10 individuals with Noonan syndrome; those with mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy, while those 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." NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_provenance.
- NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_assertion evidence source_evidence_literature NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_provenance.
- NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_assertion SIO_000772 17603482 NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_provenance.
- NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_assertion wasDerivedFrom lhgdn-20090331 NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_provenance.
- NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_assertion wasGeneratedBy ECO_0000203 NP123468.RArn9RrdfETykUuZQVRc77i-BndLWGuFub86oDmY_-Cxk130_provenance.