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Updated: Feb 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

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罕见变体聚合突出了与疾病相关的基因,这些基因与大脑体积变化有关

Douglas P Wightman1, Bernardo A P C Maciel1, Rachel M Brouwer1

  • 1Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, 1081 Amsterdam, the Netherlands.

American journal of human genetics
|February 13, 2026
PubMed
概括

DISP1,SCUBE2,PTEN和FA2H等基因的罕见变异显著影响大脑体积,并与神经系统疾病有关. 这项研究强调了罕见的变异.

关键词:
在 DISP1 的基础上.FA2H 的意思是说.在这里,我们可以使用PTEN.在水中潜水2大脑体积大脑体积的大脑体积小脑小脑是什么意思埃克索姆广泛关联研究研究神经系统疾病 神经系统疾病罕见的变种 罕见的变种白质是白色物质的组成部分.

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