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Lemmers, R. et al. (2019). 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. Journal of medical genetics. 56 (10), pp. 693-700. [Online].