Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.
- NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_assertion description "[Various SCN5A mutations are now known to present with mixed phenotypes, a presentation that has become known as overlap syndrome of cardiac sodium channelopathy. In many cases, multiple biophysical defects of single SCN5A mutations are suspected to underlie the overlapping clinical manifestations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.
- NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_assertion evidence source_evidence_literature NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.
- NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_assertion SIO_000772 18436145 NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.
- NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_assertion wasDerivedFrom befree-2016 NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.
- NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_assertion wasGeneratedBy ECO_0000203 NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.
- befree-2016 importedOn "2016-02-19" NP667764.RALHZLunbI820OnN9BrTFri0_1-hGurAyPvDNYFfouD2g130_provenance.