Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_assertion> ?p ?o ?g. }
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- NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_assertion type Assertion NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_head.
- NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_assertion description "[Mutations in three of the subunits, XPB, XPD and TTDA, lead to three distinct genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) predisposing patients not only to cancer and ageing but also to developmental and neurological defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_provenance.
- NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_assertion evidence source_evidence_literature NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_provenance.
- NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_assertion SIO_000772 21592869 NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_provenance.
- NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_assertion wasDerivedFrom befree-20150227 NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_provenance.
- NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_assertion wasGeneratedBy ECO_0000203 NP382190.RAf5tGM8zuEZtcJP9k-Vx74Gmr808fH53aokQM7MZbJYk130_provenance.