Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.
- befree-20150227 importedOn "2015-02-27" NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.
- NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_assertion wasGeneratedBy ECO_0000203 NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.
- NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_assertion wasDerivedFrom befree-20150227 NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.
- NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_assertion SIO_000772 12649809 NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.
- NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_assertion evidence source_evidence_literature NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.
- NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_assertion description "[We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_provenance.