错义突变
生物
基因敲除
外显子组测序
遗传学
神经发育障碍
转录因子
外显子组
基因
突变
作者
Kerith‐Rae Dias,Colleen M. Carlston,Laura E.R. Blok,Lachlan De Hayr,Urwah Nawaz,Carey‐Anne Evans,Pınar Bayrak‐Toydemir,Stephanie Htun,Ying Zhu,Alan Ma,Sally Ann Lynch,Catherine Moorwood,Karen Stals,Sian Ellard,Matthew N. Bainbridge,Jennifer Friedman,John Pappas,Rachel Rabin,C. Nowak,Jessica Douglas
标识
DOI:10.1016/j.gim.2022.06.001
摘要
We present genomic and functional evidence for disruption of ZMYND8 as a novel etiology of syndromic intellectual disability.
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