Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.
- NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_assertion wasGeneratedBy ECO_0000203 NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.
- NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_assertion wasDerivedFrom befree-20140225 NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.
- NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_assertion SIO_000772 12649809 NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.
- NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_assertion evidence source_evidence_literature NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.
- NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_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." NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP564934.RAzFDuoyDog0k_AXe3iBHqHPSo28BXz37WpsvphY260jc130_provenance.