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Updated: Sep 9, 2025

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

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在Usher综合征中涉及的USH1G基因中的有害误解SNP的计算研究

Kenza El Khair1,2, Madoussou Toure1, Salaheddine Redouane1

  • 1Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco.

Journal of biomolecular structure & dynamics
|September 2, 2025
PubMed
概括

这项研究通过计算识别了USH1G基因中的五个具有影响力的误解SNP, 这对于阿舍尔综合征至关重要. 这些突变显著改变了SANS蛋白的稳定性和动态,为遗传性疾病提供了洞察力.

关键词:
计算方法美国H1G分子动力学模拟没有SNP统计分析

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