Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP388048.RAGsnzShv3cu8ttCuEJ2kxfoXvz_dPB5dbFpie_nD2mko#assertion> ?p ?o ?g. }
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- assertion description "[Two patients had pathogenic SMAD3 nonsense mutations consistent with type-III Loeys-Dietz syndrome and one patient had a pathogenic FBN1 mutation with subsequent confirmation of Marfan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 26333736 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.