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Updated: Jan 10, 2026

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

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巴德1的和基因组编辑解决了VUS,并提供了对BRCA1-BARD1瘤抑制的洞察力

Ivan Woo1, Silvia Casadei1,2, Matthew W Snyder1

  • 1Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.

medRxiv : the preprint server for health sciences
|November 24, 2025
PubMed
概括

和基因组编辑在BARD1中发现了功能丧失变体,这是一种与遗传性乳腺癌相关的基因. 这种方法解决了不确定的意义的变异,改善了癌症风险评估和治疗决策.

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