Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy

Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy

Background: Auditory neuropathy (AN) is a specific type of hearing loss characterized by impaired language comprehension. Apoptosis inducing factor mitochondrion associated 1 (AIFM1) is the most common gene associated with late-onset AN. In this study, we aimed to screen the pathogenic variant of AI...

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Bibliographic Details
Main Authors: Rongrong Wang, Xiaohui Bai, Huiming Yang, Jingyu Ma, Shudong Yu, Zhiming Lu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
auditory neuropathy
hearing loss
mutation
apoptosis inducing factor mitochondrion associated 1 (AIFM1)
next-generation sequencing (NGS)
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1064823/full

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