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Updated: Jun 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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显著的神经发育和现象与功能增加和丧失的GABRB2变体相关

Nazanin Azarinejad Mohammadi1, Philip Kiær Ahring2, Vivian Wan Yu Liao2

  • 1Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.

EBioMedicine
|July 12, 2024
PubMed
概括

GABRB2中的遗传变异会导致GABA受体的功能增加 (GOF) 或功能丧失 (LOF),导致明显的神经系统疾病. GOF变种与严重疾病有关,而LOF变种与较轻的症状有关,有助于变种病原性预测.

关键词:
迪斯托尼亚 (Dystonia) 是一种疾病.是一种病.在GABA (A) 受体中,功能的获取 - 功能获取运动障碍 运动障碍发作 在发作.

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