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Updated: Jun 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DYNC1H1相关的疾病的临床和遗传频谱不断扩大

Birk Möller1, Lena-Luise Becker2,3,4, Afshin Saffari5

  • 1Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.

Brain : a journal of neurology
|June 7, 2024
PubMed
概括

在DYNC1H1基因的致病变体导致广泛的神经和多系统疾病,延伸到超出运动神经元疾病. 这项研究揭示了新的表型和年龄相关的进展,突出了dynein.

关键词:
自自是自的过程.细胞内人口贩运活动.神经发育障碍 神经发育障碍病毒免疫力 病毒免疫力

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