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Updated: Sep 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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TAOK2在16p11.2删除和重复载体中驱动对立的眼长度缺陷

Sujin Byeon1, Amy Ferreccio2, Moira Cornell2

  • 1Department of Pharmacology, University of Washington, Seattle, WA 98195, USA; Graduate Program in Neuroscience, University of Washington, Seattle, WA 98195, USA.

Stem cell reports
|August 29, 2025
PubMed
概括

在16p11.2位置的副本数量变化通过改变主要毛长度影响大脑大小. 由TAOK2激酶调节的异常乳毛长度与16p11.2拷贝数变异病理学有关.

关键词:
16p11.2 CNV 其他16p11.2 CNV相关的神经发育障碍时间表自闭症神经前代细胞神经原始体主要的眼主要的小

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