De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

标题
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
作者
关键词
-
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 106, Issue 4, Pages 438-452
出版商
Elsevier BV
发表日期
2020-03-19
DOI
10.1016/j.ajhg.2020.02.013

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