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

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...

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Detalles Bibliográficos
Autores principales: Wang, Hongyang, Bing, Dan, Li, Jin, Xie, Linyi, Xiong, Fen, Lan, Lan, Wang, Dayong, Guan, Jing, Wang, Qiuju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350177/
https://www.ncbi.nlm.nih.gov/pubmed/32684920
http://dx.doi.org/10.1155/2020/5625768