Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.
- NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_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." NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.
- NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_assertion evidence source_evidence_literature NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.
- NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_assertion SIO_000772 17273969 NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.
- NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_assertion wasDerivedFrom befree-20150227 NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.
- NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_assertion wasGeneratedBy ECO_0000203 NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP976671.RAJHITfUyJ5iJfmLGAFaoMKvbCPhM8O2ro8EK5iFca4w4130_provenance.