Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_assertion type Assertion NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_head.
- NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_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." NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.
- NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_assertion evidence source_evidence_literature NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.
- NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_assertion SIO_000772 17603482 NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.
- NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_assertion wasDerivedFrom lhgdn-20090331 NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.
- NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_assertion wasGeneratedBy ECO_0000203 NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.