Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP893948.RAIVc83tjvgaXybO8dzQ7CV9Qc84ZKQfBxeIhn_PQTr-4#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17603482 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.