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Updated: Jun 2, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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罕见的非编码变体对人类疾病的影响通过替代多基解脱异常值

Xudong Zou1, Zhaozhao Zhao2, Yu Chen2

  • 1Institute of Systems and Physical Biology, Shenzhen Bay Laboratory, Shenzhen, China.

Nature communications
|January 17, 2025
PubMed
概括

这项研究揭示了替代多基化 (APA) 异常值作为将罕见的非编码变异与复杂疾病联系起来的关键机制. 一个APA增强的框架有助于识别影响人类健康的功能罕见变异.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

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