A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2
大规模并行检测能够准确区分KCNH2热点结构域中功能正常的变异体和功能异常的变异体。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.05.003.
Chai-Ann Ng ,Rizwan Ullah ,Jessica Farr ,Adam P Hill ,Krystian A Kozek ,Loren R Vanags ,Devyn W Mitchell ,Brett M Kroncke ,Jamie I Vandenberg
