An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder

BACKGROUND: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function. OBJECTIVE: This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family. METHODS: A four-generation consangui...

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Bibliographic Details
Published in:Curr Genomics
Main Authors: Xia, Hong, Huang, Xiangjun, Xu, Hongbo, Guo, Yi, Hu, Pengzhi, Deng, Xiong, Yang, Zhijian, Liu, An, Deng, Hao
Format: Artigo
Language:Inglês
Published: Bentham Science Publishers 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6030853/
https://ncbi.nlm.nih.gov/pubmed/30065612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2174/1389202919666171113152951
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