Article

Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman Syndrome.

2021-12-29

Abstract excerpt

Gitelman syndrome (GS) is a kind of salt-losing tubular disease, most of which is caused by SLC12A3 gene variants, and missense variants account for the majority. Recently, the phenomenon of exon skipping, in which exonic variants disrupt normal pre-mRNA splicing, has been related to a variety of diseases. The purpose of this study was to identify the effect of previously presumed missense SLC12A3 variants on pr...

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Literature Corpus work: 8fe72013-5c15-58b6-87fb-0f8cbc61ed52
DOI: 10.22541/au.164077393.36287387/v1

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