Identified five variants in CFTR gene that alter RNA splicing by minigene assay

Identified five variants in CFTR gene that alter RNA splicing by minigene assay

BackgroundCystic fibrosis (CF) is a common monogenic multisystem disease caused primarily by variants in the CFTR gene. Emerging evidence suggests that some variants, which are described as missense, synonymous or nonsense variants in the literature or databases, may be deleterious by affecting the...

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Bibliographic Details
Main Authors: Bingying Zhang, Yiyin Zhang, Yan Zhang, Xuyan Liu, Ran Zhang, Zhi Wang, Fengjiao Pan, Ning Xu, Leping Shao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Genetics
Subjects:
CFTR
minigene assay
pre-mRNA splicing
exonic variant
exon skipping
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1543623/full
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