Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_assertion> ?p ?o ?g. }
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- NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_assertion type Assertion NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_head.
- NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_assertion wasGeneratedBy ECO_0000203 NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_provenance.
- NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_assertion wasDerivedFrom befree-20150227 NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_provenance.
- NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_assertion SIO_000772 19172752 NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_provenance.
- NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_assertion evidence source_evidence_literature NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_provenance.
- NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_assertion description "[Patients with the rare neurodevelopmental repair syndrome known as group A trichothiodystrophy (TTD-A) carry mutations in the gene encoding the p8 subunit of the transcription and DNA repair factor TFIIH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP866951.RA2JL-FRqRjPuG_TzUBjAxXEDPhfulbq7tzYJtly0indw130_provenance.