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浏览/检索结果: 共7条，第1-7条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 A functional indel polymorphism rs34396413 in TFAP2A intron-5 significantly increases female encephalocele risk in Han Chinese population 期刊论文 CHILDS NERVOUS SYSTEM, 2019, 卷号: 35, 期号: 6 作者:  Su, Ke;  Chen, Shuxia;  Ye, Jianhong;  Kuang, Lele;  Zhang, Ting 收藏  |  浏览/下载：25/0  |  提交时间：2019/12/05 Neural tube defects  TFAP2A  Intronic variant  rs34396413  Enhancer   Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low -glutamyltransferase 期刊论文 HEPATOLOGY RESEARCH, 2018, 卷号: 48, 期号: 7 作者:  Lu, Yi;  Wang, Neng-Li;  Qiu, Yi-Ling;  Guan, Wen-Cai;  Li, Gang 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05 ABCB11  intronic variant  minigene system  pre-RNA splicing  synonymous variant   Functional role of PLCE1 intronic insertion variant associated with susceptibility to esophageal squamous cell carcinoma 期刊论文 2018, 卷号: 39, 期号: 2, 页码: 191-201 作者:  Wei, Lixuan;  Shao, Mingming;  Zhao, Yanjie;  Zheng, Jian;  Chu, Jiahui 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03 Lower Circulating Folate Induced by a Fidgetin Intronic Variant Is Associated With Reduced Congenital Heart Disease Susceptibility 期刊论文 CIRCULATION, 2017, 卷号: 135, 期号: 18 作者:  Wang, Dan;  Wang, Feng;  Shi, Kai-Hu;  Tao, Hui;  Li, Yang 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 congenital heart diseases  folate transmembrane transport  folate utilization  proteasome   Lower Circulating Folate Induced by a Fidgetin Intronic Variant Is Associated with Reduced Congenital Heart Disease Susceptibility 期刊论文 Circulation, 2017, 卷号: Vol.135 No.18, 页码: 1733-1748 作者:  Wang, D.;  Wang, F.;  Shi, K.-H.;  Tao, H.;  Li, Y. 收藏  |  浏览/下载：4/0  |  提交时间：2019/02/25 congenital  heart  diseases  folate  transmembrane  transport  folate  utilization  proteasome   An intronic variant associated with systemic lupus erythematosus changes the binding affinity of Yinyang1 to downregulate WDFY4 期刊论文 GENES AND IMMUNITY, 2012, 卷号: 13, 期号: 7, 页码: 536-542 作者:  Zhao, H.;  Yang, W.;  Qiu, R.;  Li, J.;  Xin, Q. 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/23 Systemic lupus erythematosus  WDFY4  LRRC18  susceptibility gene  single  nucleotide polymorphism  causative variant   A functional intronic variant in the tyrosine hydroxylase (TH) gene confers risk of essential hypertension in the Northern Chinese Han population 期刊论文 CLINICAL SCIENCE, 2008, 卷号: 115, 期号: 5-6, 页码: 151-158 Wang, Laiyuan; Li, Biao; Lu, Xiangfeng; Zhao, Qi; Li, Yun; Ge, Dongliang; Li, Hongfan; Zhang, Penghua; Chen, Shufeng; Chen, Runsheng; 陈润生; Qiang, Boqin; Gu, Dongfeng 收藏  |  浏览/下载：23/0  |  提交时间：2013/12/25 association study  essential hypertension  haplotype  transcriptional repressor  tyrosine hydroxylase