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TARS2 C.470 C > G is a Chinese-Specific Founder Mutation in Three Unrelated Families with Mitochondrial Encephalomyopathy

Shujie Zhang,Haisong Qin,Qingming Wang, Yingfei Wang,Yanhui Liu,Qi Yang,Jingsi Luo,Zailong Qin,Xiang Ji,Lijuan Kan,Guoxing Geng, Jing Huang, Shengkai Wei,Qiuli Chen,Yiping Shen,Haiming Yuan, Baoling Lai

ORPHANET JOURNAL OF RARE DISEASES（2024）

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关键词
TARS2,COXPD21,Chinese-specific,Founder mutation,Mitochondrial encephalomyopathy
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