相关实验视频

Updated: Jan 14, 2026

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

Published on: January 16, 2019

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[非综合征性听力损失的听力表型是由具有不同致病性变体引起的听力损失]

S Y Wang1, Y Zhao2, J Wang1

  • 1ENT Institute and Department of Otorhinolaryngology, Eye ENT Hospital, Fudan University/NHC Key Laboratory of Hearing Medicine (Fudan University), Shanghai 200031, China.

Zhonghua yi xue za zhi
|October 26, 2025
PubMed
概括

早期发病,低频倾斜性听力损失更可能与致病性/可能致病性 (P/LP) 遗传变异有关. 这与不确定的意义 (VUS) 的变异形成鲜明对比,这些变异显示出晚期发病和不同的听力损失模式.

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