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Updated: Jul 9, 2025

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在h-BRCA1中发现的罕见粉原蛋白变体Ser282Leu和Gln356Arg的结构影响

Neha Mishra1,2, Suchita Dubey1,2, Anchala Kumari1

  • 1Advanced Center for Treatment, Research and Education in Cancer, Navi Mumbai, India.

Proteins
|December 1, 2023
PubMed
概括

两个BRCA1变体Ser282Leu和Gln356Arg表现出改变的蛋白质结构,促进聚合和粉样蛋白形成. 这种结构基础有助于对不确定的BRCA1变异进行分类,并了解它们在疾病发病过程中的作用.

关键词:
2,2,2-三乙醇 (TFE) 是一种二,二,三乙醇.乳腺癌易感性基因1 (BRCA1) 的发生.遗传性乳腺癌 (HBC) 是一种本质上有障碍的蛋白质 (IDP)未知临床意义的变异 (VUS)

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