Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
出版年份 2022 全文链接
标题
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 109, Issue 10, Pages 1909-1922
出版商
Elsevier BV
发表日期
2022-08-30
DOI
10.1016/j.ajhg.2022.08.008
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