Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP356337.RAavQ549E0bf_jyU2VMfZg1-7pl7uWjM4c88y5Sv4yOAQ#provenance>. }
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- source_evidence_literature type ECO_0000212 provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." provenance.
- assertion description "[Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA repair pathway caused by mutations in the genes ERCC6 in 65% of individuals and ERCC8 in 35% of individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 26721046 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.
- BEFREE importedOn "2017-02-19" provenance.