Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.
- NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_assertion description "[The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.
- NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_assertion evidence source_evidence_literature NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.
- NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_assertion SIO_000772 9651581 NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.
- NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_assertion wasDerivedFrom befree-20140225 NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.
- NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_assertion wasGeneratedBy ECO_0000203 NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.
- befree-20140225 importedOn "2014-02-25" NP723183.RADD1b1hQQV-Y2mmAaqaMCue4Mo12pWRbSeeAmalDWvak130_provenance.