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Updated: May 13, 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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在预测功能丧失的病原性方面,REVEL比功能获取变体更好

Jasmin J Hopkins1, Matthew N Wakeling1, Matthew B Johnson1

  • 1Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.

Human mutation
|April 14, 2025
PubMed
概括

用于变异性致病性的REVEL分数,在功能丧失与功能获取变异中表现不同. 功能增益变体不太可能达到高REVEL分数,影响其根据ACMG指南的分类.

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