Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.
- NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_assertion description "[Missense mutations within the helicase regions of these genes are associated with DNA repair deficiencies and XPD; mutations elsewhere in these genes are correlated with symptoms of XP and Cockayne syndrome and trichothiodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.
- NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_assertion evidence source_evidence_literature NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.
- NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_assertion SIO_000772 10699759 NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.
- NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_assertion wasDerivedFrom befree-2016 NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.
- NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_assertion wasGeneratedBy ECO_0000203 NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.
- befree-2016 importedOn "2016-02-19" NP276882.RApmqCfkzYbj-8v8h7XiMZekts9ZMuS2mBN1JW1vK7yAg130_provenance.