Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP887253.RAJHJfdzPSkWkIouvnCNSZ7Lx8nnU--NDKXWrBBLwNP0U#assertion> ?p ?o ?g. }
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- assertion description "[Congenital heart defects within the spectrum of complete or partial (including cleft mitral valve) atrioventricular canal defect were diagnosed in 8/101 (8%) patients, including seven with a PTPN11 gene mutation, and one single subject with a RAF1 gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 22781091 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.