ArticleJournal of medical genetics2019

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.

Richard J L F Lemmers et al.PubMed ↗Full text ↗Publisher ↗

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