De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
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ABSTRACT:
SUBMITTER: Yuan Y
PROVIDER: S-EPMC4220163 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
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De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
Yuan Yongyi Y Zhang Jianguo J Chang Qing Q Zeng Jin J Xin Feng F Wang Jianjun J Zhu Qingyan Q Wu Jing J Lu Jingqiao J Guo Weiwei W Yan Xukun X Jiang Hui H Zhou Binfei B Li Qi Q Gao Xue X Yuan Huijun H Yang Shiming S Han Dongyi D Mao Zixu Z Chen Ping P Lin Xi X Dai Pu P
Cell research 20140610 11
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