Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP762797.RAt-X5UwVIM5RIJCo6Ebgy3ItW4aIWRe7p7cfOime_7mg#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 23102684 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Corroborating previous studies, analysis of the single sporadic patient with calcified aortic valve in the presence of ascending aortic aneurysm revealed a novel heterozygous missense mutation in NOTCH1 resulting in a nonsynonymous amino acid substitution (p.T1090S, c.C3269G) of an evolutionarily conserved residue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.