Minigene splicing assays reveal new insights into exonic variants of the <i>SLC12A3</i> gene in Gitelman syndrome

Abstract

It is worth mentioning that this is the largest study on pre-mRNA splicing of SLC12A3 exonic variants. In addition, our study emphasizes the importance of detecting splicing function at the mRNA level in GS and indicates that minigene analysis is a valuable tool for splicing functional assays of variants in vitro.