Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_assertion type Assertion NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_head.
- NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_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." NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_provenance.
- NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_assertion evidence source_evidence_literature NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_provenance.
- NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_assertion SIO_000772 17603482 NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_provenance.
- NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_assertion wasDerivedFrom befree-20150227 NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_provenance.
- NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_assertion wasGeneratedBy ECO_0000203 NP664291.RABFrtBlsVmToZCfQCgr_CTU4RRXOVXQ7UBS34CM1ztuQ130_provenance.