CORC

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CORC

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Distal mutation V486M disrupts the catalytic activity of DPP4 by affecting the flap of the propeller domain 期刊论文
ACTA PHARMACOLOGICA SINICA, 2021, 页码: 9
作者:  Li, Teng-teng;  Peng, Cheng;  Wang, Ji-qiu;  Xu, Zhi-jian;  Su, Ming-bo
收藏  |  浏览/下载：39/0  |  提交时间：2022/01/18
D3DistalMutation: a Database to Explore the Effect of Distal Mutations on Enzyme Activity 期刊论文
JOURNAL OF CHEMICAL INFORMATION AND MODELING, 2021, 卷号: 61, 期号: 5, 页码: 2499-2508
作者:  Wang, Xiaoyu;  Zhang, Xinben;  Peng, Cheng;  Shi, Yulong;  Li, Huiyu
收藏  |  浏览/下载：13/0  |  提交时间：2021/08/17
Structural basis for the recognition of K48-linked Ub chain by proteasomal receptor Rpn13 期刊论文
CELL DISCOVERY, 2019, 卷号: 5, 页码: 15
作者:  Tang, Chun;  Zhang, Wei-Ping;  Liu, Kan;  Wang, Yi;  Gong, Zhou
收藏  |  浏览/下载：42/0  |  提交时间：2019/06/24
A novel mutation in VRK1 associated with distal spinal muscular atrophy. 期刊论文
Journal of human genetics, 2019
作者:  Li Nannan;  Wang Ling;  Sun Xiaoyi;  Lu Zhongjiao;  Suo Xueling
收藏  |  浏览/下载：6/0  |  提交时间：2019/02/25
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain. 期刊论文
Journal of neurology, 2019
作者:  Sun Yanan;  Chen Hai;  Lu Yan;  Duo Jianying;  Lei Lin
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/13
Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients 期刊论文
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2018, 卷号: 16, 期号: 2
作者:  Wei, Xiaojing;  Su, Feifei;  Miao, Jing;  Liu, Xuemei;  Yu, Xuefan
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 10
作者:  Zhang, Ruixiao;  Wang, Cui;  Lang, Yanhua;  Gao, Yanxia;  Chen, Zeqing
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/05
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing 期刊论文
NEUROMUSCULAR DISORDERS, 2018, 卷号: 28, 期号: 2
作者:  Zhu, Wenhua;  Eto, Masaki;  Mitsuhashi, Satomi;  Takata, Kazushiro;  Beck, Goichi
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 10, 页码: 599-606
作者:  Zhang, Ruixiao;  Wang, Cui;  Lang, Yanhua;  Gao, Yanxia;  Chen, Zeqing
收藏  |  浏览/下载：16/0  |  提交时间：2019/12/11
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families 期刊论文
2018, 卷号: 19, 期号: 1, 页码: 179
作者:  Li, Shan;  You, Yi;  Gao, Jinsong;  Mao, Bin;  Cao, Yixuan
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03

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