Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.
- NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_assertion description "[Twelve distinct mutations in the NKX2.5 coding region were identified in 18 of 608 patients (3%), including 9 of 201 (4%) with tetralogy of Fallot, 3 of 71 (4%) with a secundum ASD, one each with truncus arteriosus, double-outlet right ventricle, L-transposition of the great arteries, interrupted aortic arch, hypoplastic left heart syndrome, and aortic coarctation, but in no patients with D-transposition of the great arteries (n = 86) or valvar aortic stenosis (n = 21).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.
- NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_assertion evidence source_evidence_curated NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.
- NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_assertion SIO_000772 14607454 NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.
- NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_assertion wasDerivedFrom uniprot-2016 NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.
- NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_assertion wasGeneratedBy ECO_0000218 NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3086.RAIAqXKulvUyraoXK1KbI09wF3C6TOwcSwDGJvKeFsOmI130_provenance.