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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

Authors

  1. Correspondence to Dr Richard J L F Lemmers, Human Genetics, Leids Universitair Medisch Centrum, Leiden 2333 ZA, The Netherlands; r.j.l.f.lemmers{at}lumc.nl
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Citation

Lemmers RJLF, van der Stoep N, Vliet PJVD, et al
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

Publication history

  • Received March 21, 2019
  • Revised May 11, 2019
  • Accepted May 15, 2019
  • First published June 26, 2019.

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