Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- befree-20150227 importedOn "2015-02-27" NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion wasGeneratedBy ECO_0000203 NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion wasDerivedFrom befree-20150227 NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion SIO_000772 19251738 NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion evidence source_evidence_literature NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.
- NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_assertion description "[De novo mutation of the CHD7 gene is a major cause of CHARGE syndrome, a genetic disease characterized by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choanae, severe Retardation of growth and development, Genital abnormalities, and Ear abnormalities).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919633.RAqPMoAePoBd9AOMc6mF5TfqoUeiTwUhi6-rYea8ndW4U130_provenance.