Associated Papers
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
Zhang R et al.
Molecular Genetics & Genomic Medicine, 2024
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.
Omachi K et al.
Iscience, 2022
Missense mutations in COL4A5 or COL4A6 genes may cause cerebrovascular fibromuscular dysplasia: Case report and literature review.
Wang X et al.
Medicine, 2018
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