Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.
- NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_assertion description "[Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.
- NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_assertion evidence source_evidence_curated NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.
- NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_assertion SIO_000772 17603483 NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.
- NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_assertion wasDerivedFrom uniprot-20130724 NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.
- NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_assertion wasGeneratedBy ECO_0000218 NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5423.RAE6krTQJbg8TkwqIwdJ_cgftnn0EE15jCYfdR4eGe9Qw130_provenance.