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浏览/检索结果: 共4条，第1-4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 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   Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance 期刊论文 2017, 卷号: 38, 期号: 11, 页码: 1521-1533 作者:  Soens, Zachry T.;  Branch, Justin;  Wu, Shijing;  Yuan, Zhisheng;  Li, Yumei 收藏  |  浏览/下载：9/0  |  提交时间：2020/01/03 inherited retinal degenerations  minigene  Mendelian disease  molecular diagnosis  noncanonical splicing variants  variants of uncertain significance (VUS)   Multiple sequence elements determine the intron retention in histamine H-3 receptors in rats and mice 期刊论文 international journal of biochemistry & cell biology, 2009, 卷号: 41, 期号: 11, 页码: 2281-2286 作者:  Ding, Wenyong;  Lin, Lin;  Xiao, Zhifeng;  Zou, Hanfa;  Duan, Ziyuan 收藏  |  浏览/下载：25/0  |  提交时间：2015/11/12 Histamine H-3 receptor  Alternative splicing  Intron retention  Splice site  Sequence element   Effects of splice sites on the intron retention in histamine H-3 receptors from rats and mice 期刊论文 journal of genetics and genomics, 2009, 卷号: 36, 期号: 8, 页码: 475-482 作者:  Ding, Wenyong;  Lin, Lin;  Ren, Feng;  Zou, Hanfa;  Duan, Ziyuan 收藏  |  浏览/下载：21/0  |  提交时间：2015/11/12 histamine H-3 receptor (H3R)  alternative splicing  intron retention  splice site  minigene