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A splicing mutation in VPS4B causes dentin dysplasia I.
Yang Q, Chen D, Xiong F, Chen D, Liu C, Liu Y, Yu Q, Xiong J, Liu J, Li K, Zhao L, Ye Y, Zhou H, Hu L, Tian Z, Shang X, Zhang L, Wei X, Zhou W, Li D, Zhang W, Xu X. Yang Q, et al. Among authors: liu j, liu y, liu c. J Med Genet. 2016 Sep;53(9):624-33. doi: 10.1136/jmedgenet-2015-103619. Epub 2016 May 31. J Med Genet. 2016. PMID: 27247351
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I.
Xiong F, Ji Z, Liu Y, Zhang Y, Hu L, Yang Q, Qiu Q, Zhao L, Chen D, Tian Z, Shang X, Zhang L, Wei X, Liu C, Yu Q, Zhang M, Cheng J, Xiong J, Li D, Wu X, Yuan H, Zhang W, Xu X. Xiong F, et al. Among authors: liu y, liu c. Hum Mutat. 2017 Jan;38(1):95-104. doi: 10.1002/humu.23130. Epub 2016 Oct 19. Hum Mutat. 2017. PMID: 27680507
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Sun SC, Ma D, Li MY, Zhang RX, Huang C, Huang HJ, Xie YZ, Wang ZJ, Liu J, Cai DC, Liu CX, Yang Q, Bao FX, Gong XL, Li JR, Hui Z, Wei XF, Zhong JM, Zhou WJ, Shang X, Zhang C, Liu XG, Tang BS, Xiong F, Xu XM. Sun SC, et al. Among authors: liu j, liu cx, liu xg. Brain. 2019 Aug 1;142(8):2215-2229. doi: 10.1093/brain/awz151. Brain. 2019. PMID: 31199454
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