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Updated: Jan 8, 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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GSPT2遺伝子の有害なタンパク質変化バリアントは、知的障害、言語障害、自閉症、てんかんを伴うX連鎖神経発達障害に推定的に関連している

Yuda Wei1, Kai Liu1, Changrui Mi2

  • 1Department of Laboratory Medicine, Key Laboratory for Laboratory Medicine of Linyi City, Shandong Provincial Medicine and Health Key Laboratory for Precise Diagnosis of Hereditary Rare Diseases, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China; Department of Medical Genetics, Linyi People's Hospital, Shandong Second Medical University, Linyi, Shandong, China.

Genetics in medicine : official journal of the American College of Medical Genetics
|December 20, 2025
PubMed
要旨

キーワード:
GSPT2遺伝子知的障害自閉症てんかん言語障害

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