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Updated: Jun 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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在GSK3B中单基因功能丧失变异导致自闭症和发育迟缓

Senwei Tan1, Qiumeng Zhang1, Rui Zhan1

  • 1Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China.

Molecular psychiatry
|October 30, 2024
PubMed
概括

潜在的拼接破坏变异 (PSDVs) 最近涉及到自闭症谱系障碍 (ASD) 遗传学. GSK3B变体会导致神经发育障碍与ASD特征,突出显示PSDVs.

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