首页|期刊导航|Journal of Otology|Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss

Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss

Kun Zhang Xijian Xin Jiaxin Liu Bo Hou Peng Qu Xinbo Xu Hanbing Zhang

Journal of Otology2025，Vol.20Issue(3)：P.204-209,6.

Journal of Otology2025，Vol.20Issue(3)：P.204-209,6.DOI:10.26599/JOTO.2025.9540031

Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss

Kun Zhang ¹Xijian Xin ¹Jiaxin Liu ¹Bo Hou ¹Peng Qu ²Xinbo Xu ¹Hanbing Zhang¹

作者信息

1. Department of Otorhinolaryngology,Qilu Hospital of Shandong University,Jinan,Shandong,China NHC Key Laboratory of Otorhinolaryngology,Shandong University,Jinan,Shandong,China
2. Hospital for Skin Diseases,Shandong First Medical University,Jinan,Shandong,China Shandong Provincial Institute of Dermatology and Venereology,Shandong Academy of Medical Sciences,Jinan,Shandong,China
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摘要

关键词

Non-syndromic hearing loss/PTPRQ/Genotype/Splicing variant

分类

医药卫生

引用本文复制引用

Kun Zhang,Xijian Xin,Jiaxin Liu,Bo Hou,Peng Qu,Xinbo Xu,Hanbing Zhang..Whole Exome Sequencing Identifies Novel Splicing Variants in the PTPRQ Gene and Their Mechanisms in Autosomal Recessive Non-Syndromic Hearing Loss[J].Journal of Otology,2025,20(3):P.204-209,6.

基金项目

supported in part by the Natural Science Foundation of Shandong Province(no.ZR2022QH373,ZR2022QH292 and ZR2023MH2474). （no.ZR2022QH373,ZR2022QH292 and ZR2023MH2474）

Journal of Otology

ISSN：1672-2930

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