Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.
- NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion description "[ NKX2.5 mutation c.512insGC is associated with ASDs, syncope and sudden death. It is the second de novo mutation identified in NKX2.5. (2) NKX2.5 mutations are rare in sporadic CHD patients. (3) This study for the first time identifies association between]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.
- NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion evidence source_evidence_literature NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.
- NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion SIO_000772 20932824 NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.
- NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion wasDerivedFrom gad-20150221 NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.
- NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_assertion wasGeneratedBy ECO_0000203 NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.
- gad-20150221 importedOn "2015-02-21" NP187088.RA64LvHZEJJt4jyvEZQY5FMdhIlKj6xtQWcmmfMmGCCBQ130_provenance.