Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.
- NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_assertion description "[Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.
- NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_assertion evidence source_evidence_literature NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.
- NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_assertion SIO_000772 17273969 NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.
- NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_assertion wasDerivedFrom befree-20140225 NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.
- NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_assertion wasGeneratedBy ECO_0000203 NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP573693.RAbgdoHLJrRbkCg7j6xYC6D4eAm_RCtjcL-g7dgXCj4D8130_provenance.