Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry
利用大型心脏遗传学国家登记库,鉴定并进行剪接位点变异的计算机模拟表征。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-022-01193-9
Rayani, Kaveh; Davies, Brianna; Cheung, Matthew; Comber, Drake; Roberts, Jason D; Tadros, Rafik; Green, Martin S; Healey, Jeffrey S; Simpson, Christopher S; Sanatani, Shubhayan; Steinberg, Christian; MacIntyre, Ciorsti; Angaran, Paul; Duff, Henry; Hamilton, Robert; Arbour, Laura; Leather, Richard; Seifer, Colette; Fournier, Anne; Atallah, Joseph; Kimber, Shane; Makanjee, Bhavanesh; Alqarawi, Wael; Cadrin-Tourigny, Julia; Joza, Jacqueline; Gardner, Martin; Talajic, Mario; Bagnall, Richard D; Krahn, Andrew D; Laksman, Zachary W M