Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP472022.RA_z14blwbUDGnsSxxavdOqoSr38_uQNsJRZvRUIegLFw#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 19172752 provenance.
- assertion evidence source_evidence_literature provenance.
- 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." provenance.