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Updated: Jul 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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在ATP6AP2基因中的同名变异可能导致发育性和性脑病变

Yan Liang1,2,3, Lin Wan1,2,3, Huimin Yan1,2,3

  • 1Department of Pediatrics, Seventh Medical Center of PLA General Hospital, Beijing, China.

Frontiers in neurology
|January 26, 2024
PubMed
概括

ATP6AP2基因中的同名变异与发育性和性脑病变 (DEE) 有关. 这项研究强调了它们的致病性和破坏神经系统发育的潜力.

关键词:
在 ATP6AP2 中,与ATP6AP2相关的DEE与ATP6AP2有关.发育性和性脑病变.突出跳跃的外星人跳跃同名的变体同名的变体.

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