GeneticsbioRxivPreprint
A Gene Replacement Humanization Platform for Rapid Functional Testing of Clinical Variants in Epilepsy-associated STXBP1.
Kathryn McCormick, Trisha Brock, Matthew Wood…·Christopher E. Hopkins
The paper uses C. elegans to functionally test STXBP1 variants, classifying them as benign, pathogenic, or VUS with machine learning models.