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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

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Description scientific article
Author/s

author: Lucianne Vandeleur  Jackie Boyle  Jozef Gécz  Elena Botta  Michael Stratton  Gillian Turner  Patrick S. Tarpey 

Publication date January 22, 2015
Language English
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