Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.
Xiaomeng ShiHong WangRuixiao ZhangZhiying LiuWencong GuoSai WangXuyan LiuYanhua LangIrene BottilloBingzi DongLeping ShaoPublished in: Molecular genetics & genomic medicine (2023)
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.