Articles with "slc12a1 clcnkb" as a keyword



Photo by guillepozzi from unsplash

Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay

Sign Up to like & get
recommendations!
Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.961384

Abstract: Background: Bartter syndrome (BS) is a rare renal tubular disease caused by gene variants in SLC12A1, KCNJ1, CLCNKA, CLCNKB, BSND or MAGED2 genes. There is growing evidence that many exonic mutations can affect the pre-mRNA… read more here.

Keywords: slc12a1 clcnkb; variants slc12a1; twelve exonic; minigene ... See more keywords