Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_assertion> ?p ?o ?g. }
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- NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_assertion type Assertion NP228768.RAiEdnFfOt6gr5HDDVsOpiW9kCgPN4XTlOsd6zlt-ME4s130_head.
- 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.