Structural mapping of patient-associated KCNMA1 gene variants
H. J. Moldenhauer, K. Tammen, A. L. Meredith
This study maps 82 KCNMA1 variants in BK channels, identifies LOF clusters, and develops an ensemble algorithm to improve pathogenicity prediction for variants of uncertain significance.
bioRxiv · Jul 27, 2023 · PreprintBiophysics