Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.
- NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_assertion description "[Mutations in JAG1 were detected in three patients with Alagille syndrome (1.3%), while NKX2.5 mutations were seen in two patients with non-syndromic ToF (0.9%).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.
- NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_assertion evidence source_evidence_literature NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.
- NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_assertion SIO_000772 19948535 NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.
- NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_assertion wasDerivedFrom befree-2016 NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.
- NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_assertion wasGeneratedBy ECO_0000203 NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP778436.RAOYEdbpJ5b5sYr-RSa_OZSqv-rtAQjBLUddjDaSxQlKQ130_provenance.