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The Clinical Spectrum and Pathogenesis Associated with KMT2B Variants in Chinese Pediatric Patients

Shuangjin Ding,Gang Xie, Zonglin Han,Yangming Wang, Ming Shi, Feng Zhai,Tinghong Liu,Zihang Xie,Weihua Zhang,Yun Wu,Xinying Yang,Anna Zhou, Fang,Shuhong Ren,Shuli Liang,Huiqing Cao,Hui Xiong,Changhong Ding,Lifang Dai

PARKINSONISM & RELATED DISORDERS（2024）

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Key words
KMT2B,Dystonia,Developmental delay,Mitochondria
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