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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

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Description scientific article published on 21 November 2017
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author: Yvonne D Krom  Patrick J van der Vliet  Lauren Snider  Kirsten R Straasheijm  Sabrina Sacconi  Wibowo Arindrarto  Judit Balog  Silvère M van der Maarel  Stephen J Tapscott  Baziel van Engelen  Rabi Tawil  Jelle J Goeman 

Publication date November 21, 2017
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