Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

BackgroundFamilial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants. However, there is growing evidence that some of these variants can be detrimental by affecting the pre-mRNA splicing pr...

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Bibliographic Details
Main Authors: Sai Wang, Yixiu Wang, Jinchao Wang, Zhiying Liu, Ruixiao Zhang, Xiaomeng Shi, Yue Han, Wencong Guo, Irene Bottillo, Leping Shao
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Genetics
Subjects:
SLC5A2 gene
exonic variant
missense variant
pre-mRNA splicing
minigene analysis
exon skipping
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.585064/full

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