Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

Xiang, JL; Sun, XZ; Song, NN; Ramaswamy, S; Abou Tayoun, AN; Peng, ZY

Peng, ZY (通讯作者)，Univ Chinese Acad Sci, Coll Life Sci, Beijing 100049, Peoples R China.;Peng, ZY (通讯作者)，BGI Shenzhen, BGI Genom, Shenzhen 518083, Peoples R China.;Abou Tayoun, AN (通讯作者)，Al Jalila Childrens Specialty Hosp, Al Jalila Genom Ctr, Dubai, U Arab Emirates.;Abou Tayoun, AN (通讯作者)，Mohammed Bin Rashid Univ Med & Hlth Sci, Ctr Genom Discovery, Dubai, U Arab Emirates.

HUMAN GENETICS, 2023; 142 (1): 33

Abstract

Genetic variants in GJB2 are the most frequent cause of congenital and childhood hearing loss worldwide. The purpose of this study was to delineate th......

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