Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP23198.RAZBL9vimNDutYC5yx3f23GMHawc2F9k3_E5RqJY6yW4g#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 12649809 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.