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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
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

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[良性成年家族肌性的分子遗传学]

Hiroyuki Ishiura1

  • 1Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences.

Rinsho shinkeigaku = Clinical neurology
|June 26, 2025
PubMed
概括

良性成年家族肌性 (BAFME) 是由多个基因的重复扩张引起的,包括SAMD12,TNRC6A和RAPGEF2. 研究人员提出重复动机-表型相关性,表明RNA毒性作为关键机制.

关键词:
在RNA中毒性RNA毒性良性成年人家族性肌痛性发症这是一个内在的,内在的.重复扩张可以重复扩张.重复动机表型相关性相关性

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