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Updated: Jun 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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新的KCNQ2误解变异扩大了DEE7的基因型谱

Chao Wang1, JinXia Zhai1, YongJun Chen2

  • 1Department of Neurology, the Affiliated Nanhua Hospital, Hengyang Medical School, University of South China, Hengyang, China.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|June 16, 2024
PubMed
概括

一种新的KCNQ2基因变异,p.ALa336Glu,与和发育障碍有关. 在Drosophila的功能研究证实了它的致病性,扩大了KCNQ2基因型-表型的理解.

关键词:
轰炸灵敏度 轰炸灵敏度这一次,DEE7,Drosophila,KCNQQ是一种病.发作 发作 发作

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