Rare mutations in Atoh1 lead to hearing loss

Samira Ajdari,Javad Saffari-Chaleshtori,Zahra Pourteymourfard-Tabrizi,Payam Ghasemi-Dehkordi,Mahdi Ghatreh Samani,Majid Validi,Hamidreza Kabiri,Morteza Hashemzadeh Chaleshtori,Mohammad-Saeid Jami

Gene Reports（2021）

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摘要

•Atoh1 has a pivotal effect on hair cell differentiation and viability.•Because of the vital developmental roles, mutations in the ATOH1 gene are mostly lethal and rare.

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关键词

HRM,HL,MD,SNP,NSHL,SHL,RTN,RG,RMSD,RMSF,TE,SNHL

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