Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_assertion> ?p ?o ?g. }
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- NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_assertion type Assertion NP822452.RAv4vd8_By7-aBowaQKpv4w1uYe2LGP2nS2Xh8fA8dKow130_head.
- 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.