Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.
- NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_assertion description "[Here, we show that mutations in the signalling and transcriptional regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in non-syndromic autosomal-dominant human pedigrees.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.
- NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_assertion evidence source_evidence_literature NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.
- NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_assertion SIO_000772 16025100 NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.
- NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_assertion wasDerivedFrom befree-20140225 NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.
- NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_assertion wasGeneratedBy ECO_0000203 NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP921967.RAkI1rfMWQQcJktkDorodVIjjaHjzZ1ycDnG1biumWTcI130_provenance.