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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2020
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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 |