Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_assertion> ?p ?o ?g. }
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- NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_assertion type Assertion NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_head.
- NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_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." NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_provenance.
- NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_assertion evidence source_evidence_literature NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_provenance.
- NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_assertion SIO_000772 10699759 NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_provenance.
- NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_assertion wasDerivedFrom befree-20140225 NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_provenance.
- NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_assertion wasGeneratedBy ECO_0000203 NP161733.RAqdTM7F8GehL7kcJspA15OppRr_IF9hIn3otE9qSs3sA130_provenance.