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CORC

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Common Variants in ABI3 Influence Cerebrospinal Fluid Total Tau Levels and Cognitive Decline in Progressive Mild Cognitive Impairment Patients 期刊论文
JOURNAL OF ALZHEIMERS DISEASE, 2019, 卷号: 70, 期号: 1
作者:  Yin, Rui;  Cao, Xi-Peng;  Yu, Jin-Tai;  Tan, Lan;  Niu, Li-Dong
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/05
An atypical case of early-onset dystonia with a novel missense variant in KMT2B 期刊论文
PARKINSONISM & RELATED DISORDERS, 2019, 卷号: 63
作者:  Zhou, Xin-Yue;  Wu, Jian-Jun;  Sun, Yi-Min
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/05
Dystonia  KMT2B  Gene  De novo  
A Prognostic Study of Clinical Characteristics and Lung Function for Cough Variant Asthma with Small Airway Disease 会议论文
作者:  Chen, Z.;  Yuan, H.;  Liu, X.;  Du, C.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
A promoter variant in ZNF804A decreasing its expression increases the risk of autism spectrum disorder in the Han Chinese population 期刊论文
TRANSLATIONAL PSYCHIATRY, 2019, 卷号: 9
作者:  Wang, Hongyan;  Zhang, Linna;  Qin, Yue;  Gong, Xiaohong;  Peng, Rui
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/05
Complex ATP7B mutation patterns in Wilson disease and a evaluation of a yeast model for functional analysis of the individual variant 会议论文
作者:  Chen, Yongpeng;  Li, Xiaojin;  Zhang, Wei;  Zhou, Donghu;  Lv, Tingxia
收藏  |  浏览/下载：37/0  |  提交时间：2019/12/05
Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract 期刊论文
MOLECULAR GENETICS AND GENOMICS, 2019, 卷号: 294, 期号: 2
作者:  Yang, Nan;  Song, Chengcheng;  Xu, Hong;  Zhang, Feng;  Wang, Hongyan
收藏  |  浏览/下载：33/0  |  提交时间：2019/12/05
TREM2 Variants and Neurodegenerative Diseases: A Systematic Review and Meta-Analysis 期刊论文
JOURNAL OF ALZHEIMERS DISEASE, 2019, 卷号: 68, 期号: 3
作者:  Hou, Xiao-He;  Tan, Chen-Chen;  Yu, Jin-Tai;  Tan, Lan;  Cao, Xi-Peng
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/05
An alternatively transcribed TAZ variant negatively regulates JAK-STAT signaling 期刊论文
EMBO REPORTS, 2019, 卷号: 20, 期号: 6
作者:  Fang, Chuantao;  Li, Jian;  Qi, Sixian;  Lei, Yubin;  Zeng, Yan
收藏  |  浏览/下载：28/0  |  提交时间：2019/12/05
The PNPLA3 rs738409 C>G variant influences the association between low skeletal muscle mass and NAFLD: the Shanghai Changfeng Study 期刊论文
ALIMENTARY PHARMACOLOGY & THERAPEUTICS, 2019, 卷号: 50, 期号: 6
作者:  Chen, Ling-Yan;  Wu, Li;  Ma, Hui;  Li, Qian;  Aleteng, Qiqige
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05
The PNPLA3 rs738409 C > G variant interacts with changes in body weight over time to aggravate liver steatosis, but reduces the risk of incident type 2 diabetes 期刊论文
DIABETOLOGIA, 2019, 卷号: 62, 期号: 4
作者:  Xia, Ming-Feng;  Lin, Huan-Dong;  Chen, Ling-Yan;  Wu, Li;  Ma, Hui
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05

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