Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_assertion> ?p ?o ?g. }
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- NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_assertion type Assertion NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_head.
- NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_assertion description "[Mutations in the DNA-dependent ATPase/helicase subunits of TFIIH, XPB and XPD, are associated with three inherited syndromes as follows: xeroderma pigmentosum with or without Cockayne syndrome and trichothiodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_provenance.
- NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_assertion evidence source_evidence_literature NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_provenance.
- NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_assertion SIO_000772 10660593 NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_provenance.
- NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_assertion wasDerivedFrom befree-2016 NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_provenance.
- NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_assertion wasGeneratedBy ECO_0000203 NP274180.RAXiRdEoN0LWtg63nHJG3lHI9pkQGKkQv1So0KPFX2rls130_provenance.