[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].
OBJECTIVES To investigate the genetic etiology of a three-generation pedigree affected with piebaldism. METHODS Next-generation sequencing and Sanger sequencing were employed to detect and verify gene variants. Bioinformatics tools were used to predict the effects of candidate variants on splicing and protein functio...