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Updated: Jul 2, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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Published on: August 20, 2019

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在DENND5B中出现的de novo变异会导致神经发育障碍

Marcello Scala1, Valeria Tomati2, Matteo Ferla3

  • 1Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy.

American journal of human genetics
|February 22, 2024
PubMed
概括

在DENND5B中的遗传变异破坏了细胞内运输,导致神经发育障碍与认知障碍,和白质缺陷. 这项研究将DENND5B与关键的细胞贩运通道联系起来.

关键词:
DENND5B 的意思是什么?拉布GPTases的使用方法细胞平衡是细胞的平衡.是一种.关氨酸核酸交换因子智力障碍 智力障碍是一种智力障碍.脂质的吸收和分布.膜贩运 贩卖 贩卖 贩卖 贩卖 贩卖 贩卖神经发育障碍是一种神经发育障碍.

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