A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family-Reference-Cited by-同舟云学术

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A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family

Published:2022-01-27 Issue:21 Volume:135 Page:2631-2633
ISSN:0366-6999
Container-title:Chinese Medical Journal
language:en
Short-container-title:

Author:

Zeng Beiping,Xu Hongen,Tian Yongan,Lin Qianyu,Feng Haifeng,Zhang Zhifeng,Li Siqi,Tang Wenxue

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine,General Medicine

Reference6 articles.

1. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function;Kurima;Nat Genet,2002

2. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment;Santos;Hum Mutat,2005

3. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss;Oza;Hum Mutat,2018

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

5. Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1;de Heer;Audiol Neurootol,2011

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss;Human Genetics;2024-03

2. PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss;2023-10-09

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