Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.
- 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.
- lhgdn-20090331 importedOn "2009-03-31" NP226759.RAlZ4gt2qRGCvRF-xCeJ41Q4SsoLr8hoNlIauIU0uoJeU130_provenance.