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Article

High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.

Neural plasticity - 1 Jan 2020

Wang Hongyang, Bing Dan, Li Jin, Xie Linyi, Xiong Fen, Lan Lan, Wang Dayong, Guan Jing, Wang Qiuju

Abstract excerpt

To decipher the genotype-phenotype correlation of auditory neuropathy (AN) caused by AIFM1 variations, as well as the phenotype progression of these patients, exploring the potential molecular pathogenic mechanism of AN. A total of 36 families of individuals with AN (50 cases) with AIFM1 variations were recruited and identified by Sanger sequencing or next-generation sequencing; the participants included 30...

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Identifiers

PMID: 32684920
DOI: 10.1155/2020/5625768
PMCID: PMC7350177

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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