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Updated: Mar 12, 2026

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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无法解释的新生儿发作的遗传谱:一个单中心研究

Zhiyong Liu1,2, Ying He1,2, Junzi Huang1,2

  • 1Department of Neonatology, Huaqiao University School of Medicine Affiliated Women and Children's Hospital, Quanzhou, China.

Translational pediatrics
|March 11, 2026
PubMed
概括

下一代测序 (NGS) 识别了大多数无法解释的新生儿发作的遗传原因,有助于治疗和预后. 这项研究定义了中国队列中的遗传谱,揭示了可治疗的疾病和严重的结果.

关键词:
是一种病.新生儿发作 新生儿发作下一代测序 (NGS) 是指下一代的测序.变种 变种 变种 变种 变种整体外因子测序 (WES) 测序

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