Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

ConclusionOur study revealed that two missense variants positioned the first nucleotides of the 5 ′ end ofCOL4A5 exons and one internal exonic nonsense variant caused aberrant splicing. Importantly, this study emphasized the necessity of assessing the effects of SNVs at the mRNA level.

Source: Molecular Genetics & Genomic Medicine - February 24, 2024 Category: Genetics & Stem Cells Authors: Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao Tags: ORIGINAL ARTICLE Source Type: research