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- source_evidence_literature type ECO_0000212 NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.
- NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_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." NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.
- NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_assertion evidence source_evidence_literature NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.
- NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_assertion SIO_000772 17603482 NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.
- NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_assertion wasDerivedFrom befree-20140225 NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.
- NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_assertion wasGeneratedBy ECO_0000203 NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP159791.RArlpU7cKqxE0cKKETeo_y08abk8wsIwP-1cLwS6n_1W0130_provenance.