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The human XPB DNA helicase is a subunit of the DNA repair/basal transcription factor TFIIH, and is involved in early steps of the nucleotide excision repair (NER) pathway. Two distinct clinical phenotypes, xeroderma pigmentosum associated with Cockayne's syndrome (XP/CS) and trichothiodystrophy (TTD), can be due to mutations in the XPB gene.
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