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SaveImpact of POU3F4 mutation on cochlear development and auditory function
Dang, Jiong; Bian, Panpan; Chen, Chao; Chen, Chi; Shan, Wenqi; Cai, Luhang; Li, Yong; Tan, Huan; Xu, Baicheng; Guan, Minxin; Guo, Yufen
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SaveMutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy
Wang, Chenghui; Zhang, Liyao; Nie, Zhipeng; Liang, Min; Liu, Hanqing; Yi, Qiuzi; Wang, Chunyan; Ai, Cheng; Zhang, Juanjuan; Gao, Yinglong; Ji, Yanchun; Guan, Min-Xin; Ai, Cheng; Zhang, Juanjuan; Gao, Yinglong; Ji, Yanchun; Guan, Min-Xin
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SaveSpliceTransformer predicts tissue-specific splicing linked to human diseases
You, Ningyuan; Liu, Chang; Gu, Yuxin; Wang, Rong; Jia, Hanying; Zhang, Tianyun; Jiang, Song; Shi, Jinsong; Chen, Ming; Guan, Min-Xin; Sun, Siqi; Pei, Shanshan; Liu, Zhihong; Shen, Ning
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SaveMitochondrial tRNAGlu 14693A>G Mutation, an Enhancer to the Phenotypic Expression of Leber's Hereditary Optic Neuropathy
Jin, Lihao; Gan, Dingyi; He, Wentao; Wu, Na; Xiang, Shuchenlu; Wei, Yinsheng; Eriani, Gilbert; Ji, Yanchun; Guan, Min-xin; Wang, Meng
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Savecdh23 affects congenital hearing loss through regulating purine metabolism
Yang, Shu; Xie, Bing-Lin; Dong, Xiao-ping; Wang, Ling-xiang; Zhu, Gang-hua; Wang, Tian; Wu, Wei-jing; Lai, Ruo-sha; Tao, Rong; Guan, Min-xin; Chen, Fang-yi; Tan, Dong-hui; Deng, Zhong; Xie, Hua-ping; Zeng, Yong; Xiao, Zi-an; Xie, Ding-hua
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SaveA Hypertension-Associated tRNAAla Mutation Alters tRNA Metabolism and Mitochondrial Function
Jiang, Pingping; Wang, Meng; Xue, Ling; Xiao, Yun; Yu, Jialing; Wang, Hui; Yao, Juan; Liu, Hao; Peng, Yanyan; Liu, Hanqing; Li, Haiying; Chen, Ye; Guan, Min-Xin
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