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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Title
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
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume -, Issue -, Pages jmedgenet-2019-106168
Publisher
BMJ
Online
2019-06-27
DOI
10.1136/jmedgenet-2019-106168

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