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Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder.Nat Genet. 2000 Nov;26(3):307-13. doi: 10.1038/81603. Nat Genet. 2000. PMID: 11062469
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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.Nat Genet. 2000 Nov;26(3):370-4. doi: 10.1038/81701. Nat Genet. 2000. PMID: 11062483
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