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[Identification and functional analysis of a novel variant of CHD23 gene in a Chinese pedigree affected with Non-syndromic autosomal recessive deafness 12].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2025

Qin Litao, Ren Zengguo, Wang Meiying, Shi Tingting, Chen Xin, Zhang Qian, Lou Guiyu, Liao Shixiu, Wang Li

Abstract excerpt

OBJECTIVE: To analyze a Chinese pedigree affected with Non-syndromic autosomal recessive deafness type 12 (NFNB12), validate the function of candidate variants, and explore the underlying mechanisms. METHODS: A NFNB12 pedigree presented at Henan Provincial People's Hospital in February 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out, and candidate variant was verified by...

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Identifiers

PMID: 41811048
DOI: 10.3760/cma.j.cn511374-20250514-00290

Genes

CDH23

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