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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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ATAD3A gene variations in a family with Harel-Yoon syndrome

Yi Zheng1, Xinyu Yu2, Ting Zhang3

  • 1Department of Genetic and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China. 22318424@zju.edu.cn.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences
|December 18, 2023
PubMed

Keywords:
ATAD3A geneCase reportHarel-Yoon syndromeHereditary spastic paraplegiaHyperlactatemiaMetabolic acidosisPontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal

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