BiophysicsbioRxiv
A Massively Parallel Trafficking Assay Accurately Predicts Loss of Channel Function in KCNH2 Variants
C. A. Ng, R. Ullah, J. Farr…·J. I. Vandenberg
The paper develops a trafficking assay to predict KCNH2 variant function, showing high accuracy in classifying loss-of-function variants compared to existing methods.
DOI 10.1016/j.ajhg.2022.05.003