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[Clinical and Genetic Analysis of Two Pedigrees Affected with Carnitine-acylcarnitine Translocase Deficiency Due to Variant of SLC25A20 Gene].

Qinghua Zhang, Xuan Feng, Xing Wang,Furong Liu,Bingbo Zhou,Chuan Zhang,Yupei Wang,Jingyun Shi,Shengju Hao,Ling Hui, Bin Yi

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2024）

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Key words
Carnitine-acylcarnitine translocase deficiency,SLC25A20 gene,Trio-whole exome sequencing,Novel variant
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