相关实验视频

Updated: Jun 30, 2025

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

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

Published on: August 20, 2019

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一种无意义的CC2D1A变体与先天性异常,运动延迟,低血压和轻微形有关

Sheng Yi1,2, Xianglian Tang1,2, Qiang Zhang1,2

  • 1Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Heliyon
|March 18, 2024
PubMed
概括

自体逆性智力发育障碍-3,与CC2D1A基因相关,导致智力障碍和自闭症谱系障碍. 这项研究确定了一种新的患者变异,并扩大了已知的CC2D1A突变谱.

关键词:
自闭症谱系障碍 自闭症谱系障碍在CC2D1A中.低心力症 (hypotonia) 是一种低心力症.智力障碍 智力障碍是一种智力障碍.发动机延迟时间小说变体的新变体产前的表型 产前的表型

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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