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Biallelic Variants in RBM42 Cause a Multisystem Disorder with Neurological, Facial, Cardiac, and Musculoskeletal Involvement.

Yiyao Chen,Bingxin Yang,Xiaoyu Merlin Zhang,Songchang Chen,Minhui Wang,Liya Hu,Nina Pan,Shuyuan Li,Weihui Shi, Zhenhua Yang,Li Wang,Yajing Tan,Jian Wang,Yanlin Wang,Qinghe Xing,Zhonghua Ma,Jinsong Li,He-feng Huang,Jinglan Zhang,Chenming Xu

PROTEIN & CELL（2024）

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Key words
RBM42 gene,RNA-binding protein,neurodevelopmental disorder,Au-Kline syndrome,alternative splicing
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