Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
A Drosophila model to screen Alport syndrome COL4A5 variants for their functional pathogenicity.
Duan J et al.
Biorxiv : the Preprint Server for Biology, 2024
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
Zhang R et al.
Molecular Genetics & Genomic Medicine, 2024
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
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