Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
Ran ZhangYanhua LangXiaomeng ShiYiyin ZhangXuyan LiuFengjiao PanDan QiaoXin TengLeping ShaoPublished in: Molecular genetics & genomic medicine (2024)
Our study revealed that two missense variants positioned the first nucleotides of the 5' end of COL4A5 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.