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Updated: Jul 26, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在NSUN2中导致智力障碍的自体相衰变异c.953A>C和c.97-1G>C:对功能丧失机制的分子动力学模拟研究

Nazif Muhammad1, Syeda Iqra Hussain1, Zia Ur Rehman2

  • 1Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.

Frontiers in neurology
|June 12, 2023
PubMed
概括

在巴基斯坦家庭中发现了NSUN2基因的两个新型突变,这些家庭患有自体逆向智力发育障碍-5 (MRT5). 这些遗传发现扩大了已知的智力障碍原因,并突出了NSUN2的存在.

关键词:
在NSUN2基因中,NSUN2基因被发现.血缘关系是一种血缘关系.智力障碍 智力障碍是一种智力障碍.分子动力学模拟模拟新型变种 新型变种

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