Molecular Mechanisms and Clinical Phenotypes of <i>GJB2</i> Missense Variants

Molecular Mechanisms and Clinical Phenotypes of <i>GJB2</i> Missense Variants

The <i>GJB2</i> gene is the most common gene responsible for hearing loss (HL) worldwide, and missense variants are the most abundant type. <i>GJB2</i> pathogenic missense variants cause nonsyndromic HL (autosomal recessive and dominant) and syndromic HL combined with skin di...

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Bibliographic Details
Main Authors: Lu Mao, Yueqiang Wang, Lei An, Beiping Zeng, Yanyan Wang, Dmitrij Frishman, Mengli Liu, Yanyu Chen, Wenxue Tang, Hongen Xu
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Biology
Subjects:
hereditary hearing loss
<i>GJB2</i>
missense variants
molecular mechanisms
deep mutational scanning
Online Access:https://www.mdpi.com/2079-7737/12/4/505

Internet

https://www.mdpi.com/2079-7737/12/4/505

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