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De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
Yuan Y, Zhang J, Chang Q, Zeng J, Xin F, Wang J, Zhu Q, Wu J, Lu J, Guo W, Yan X, Jiang H, Zhou B, Li Q, Gao X, Yuan H, Yang S, Han D, Mao Z, Chen P, Lin X, Dai P. Yuan Y, et al. Among authors: li q. Cell Res. 2014 Nov;24(11):1370-3. doi: 10.1038/cr.2014.77. Epub 2014 Jun 10. Cell Res. 2014. PMID: 24913193 Free PMC article. No abstract available.
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