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