BiophysicsbioRxivPreprint
Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation
Ana Cristina Chang-Gonzalez, Eric W. Bell, Carlos G. Vanoye…·Jens Meiler
The paper develops classifiers to distinguish functional and trafficking effects of KCNQ1 variants, improving variant interpretation for LQTS and channelopathies.
DOI 10.1101/2025.10.31.685955