Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.
- NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_assertion description "[In humans, there are five RECQ helicase genes, and mutations in three of them-BLM, WRN, and RECQL4-are associated with the genetic disorders Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.
- NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_assertion evidence source_evidence_literature NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.
- NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_assertion SIO_000772 24924172 NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.
- NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_assertion wasDerivedFrom befree-20150227 NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.
- NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_assertion wasGeneratedBy ECO_0000203 NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.
- befree-20150227 importedOn "2015-02-27" NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_provenance.