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Updated: May 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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与AKT3相关的神经发育状况的表型和遗传谱

Xiaole Wang1, Zhanwei Zhang1, Pan Peng1

  • 1Department of Pediatrics, Xiangya Hospital of Central South University, 87 Xiangya Road, Changsha, 410008, Hunan, China.

Scientific reports
|March 3, 2025
PubMed
概括

AKT3基因变异导致神经发育障碍,具有与大脑病相关的功能增益突变和与小脑病相关的功能丧失变异. 这项研究扩大了对AKT3相关疾病和基因型-表型相关性的理解.

关键词:
一个AKT3就是AKT3.1q43q44 删除 删除 删除1q43q44重复的重复情况神经发育障碍 神经发育障碍

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