Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

标题
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
作者
关键词
intellectual disability, RNA helicase, processing bodies, p-bodies, mRNA metabolism, missense variants, DDX6, DEAD-box, DExD/H-box, helicase, RecA domain, neurodevelopmental disorder
出版物
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 105, Issue 3, Pages 509-525
出版商
Elsevier BV
发表日期
2019-08-15
DOI
10.1016/j.ajhg.2019.07.010

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