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Updated: Sep 10, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

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

Published on: June 6, 2025

492

神経発達障害のない一般的なと関連したATP2B1の変種と,その基礎となるメカニズム

Jun-Hui Zhu1, Zheng Chen2, Chuan-Fang Cheng3

  • 1Department of Neurology, The Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen 518107, China.; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.

Seizure
|August 20, 2025
PubMed
まとめ

ATP2B1遺伝子は一般的なと関連しています. ATP2B1の特定の変異はを引き起こすことができ,より深刻な変異は神経発達障害に関連しており,現象的違いを説明します.

キーワード:
ATP2B1遺伝子好ましい結果一般的なゲノタイプ-フェノタイプ相関PMCA1 についてトリオベースの全エクソームシーケンシング

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