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Updated: Jun 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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在SOPH综合征方面使用AlphaFold对NBAS的蛋白质变异表型研究

Leonid Zhozhikov1, Filipp Vasilev1, Nadezhda Maksimova1

  • 1Research Laboratory of "Molecular Medicine and Human Genetics", Institute of Medicine, Ammosov North-Eastern Federal University, Yakutsk, Republic of Sakha (Yakutia), Russia.

Proteins
|December 6, 2024
PubMed
概括

NBAS基因变异导致不同的综合征,如SOPH和ILFS2. 这项研究使用AlphaFold来建模NBAS蛋白,揭示其变体如何影响蛋白相互作用并导致这些复杂的多系统条件.

关键词:
根据NBAS的规定,这些都是NBAS.阿尔法折叠是什么意思阿尔法折叠这就是SOPH的意思.急性肝衰竭是一种严重的肝衰竭.膜的交通流量.视力缩的光学缩

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