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Updated: Sep 18, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

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与PPP3CA相关的发育性和性脑病变的新变异和基因型-表型相关性

Ting Wang1, Shijia Ouyang1, Xueyang Niu2

  • 1Children's Medical Center of Peking University First Hospital, Beijing, China.

Frontiers in neuroscience
|June 23, 2025
PubMed
概括

与PPP3CA相关的发育性和性脑病变 (DEE) 与特定的遗传变异有关. 催化领域的变异与婴儿发作综合征有关,而调节领域的变异与多种发作类型和自闭症谱系障碍相关.

关键词:
在PPP3CA中,可以使用PPP3CA.发育性和性脑病变.基因型 基因型 基因型现象型 现象型 是一种现象型.变种变种的变种

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