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Updated: Jan 17, 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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双性CRELD1变体会导致严重的肌肉衰弱和婴儿

Manuela D'Alessandro1, Daniel Bamborschke2,3, Margret H Bülow4,5

  • 1Univ Lyon, University Claude Bernard Lyon 1, MeLiS, CNRS UMR 5284, INSERM U 1314, Lyon 69008, France.

Brain communications
|September 22, 2025
PubMed
概括

在CRELD1基因的突变导致一种罕见的神经发育障碍. 这项研究确定了与关节,肌肉衰弱和相关的复合异性CRELD1变体.

关键词:
在CREELD1中.关节形的情况.是一种.尼古丁酸乙胆受体是什么

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