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Updated: Jul 19, 2025

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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Published on: February 28, 2021

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在BRCA1氨基末端的2172个变异中,DNA修复功能得分为1

Mariame Diabate1,2, Muhtadi M Islam1,2, Gregory Nagy1,2

  • 1The Ohio State University, Department of Biomedical Informatics, Columbus, Ohio, United States of America.

PLoS genetics
|August 14, 2023
PubMed
概括

功能性测试对BRCA1变异的影响进行分类,帮助遗传学家解释具有不确定的意义的变异 (VUS). 这项研究提高了BRCA1的变异分类,改善了乳腺癌和卵巢癌风险评估.

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