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SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

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Description scientific article published on 26 June 2019
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author: Patrick J van der Vliet  Nicol Voermans  Virginia Kimonis  Sabrina Sacconi  Steven A Moore  Richard J L F Lemmers  Silvère M van der Maarel  Baziel van Engelen  Nienke van der Stoep  Rabi Tawil  Rita Selvatici 

Publication date June 26, 2019
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