Functional Validation of Known BEST1 Variants Using a Robust Halide-Sensitive YFP Quenching Assay
Sachini U. Siriwardena, Mayur Choudhary, Jason Lee…·Ashwath Jayagopal
The paper develops a halide-sensitive YFP quenching assay to functionally validate BEST1 variants and distinguish loss-of-function from gain-of-function mutations.