Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

标题
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 102, Issue 6, Pages 1126-1142
出版商
Elsevier BV
发表日期
2018-05-24
DOI
10.1016/j.ajhg.2018.04.010

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