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Updated: Sep 13, 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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EMC10基因变异可能会对神经精神疾病模式产生双重分子效应

Hilmi Bolat1, Dilan Genç Akdağ1, Gül Ünsel-Bolat2

  • 1Department of Medical Genetics, Faculty of Medicine, Balıkesir University, Balıkesir, Türkiye.

Developmental neurobiology
|July 31, 2025
PubMed
概括

这项研究确定了一种新的EMC10基因变异,导致神经发育障碍与异形面部和可变发作 (NEDDFAS). 这些发现扩大了对这种罕见遗传疾病及其临床谱的理解.

关键词:
在EMC10基因.发育延迟的发展延迟.遗传咨询 遗传咨询 遗传咨询智力障碍 智力障碍是一种智力障碍.神经发育障碍 神经发育障碍

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