Functional profiling of STXBP1 missense variants using a novel dual-readout fluorometric assay.
Elisa A. Waxman
Jennine M. Dawicki-McKenna
I. McSalley
A. Prentice
T. Chisari
S. Ruggiero
J. McKee
A. Félix
Giulia Pavani
B. Prosser
M. Boland
I. Helbig
Medicine