Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

标题
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 24, Issue 1, Pages 78-85
出版商
Springer Nature
发表日期
2015-03-18
DOI
10.1038/ejhg.2015.55

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