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
Genetic study of Alport syndrome in Tunisia.
Younsi ME et al.
Pediatric Nephrology (berlin, Germany), 2025
Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.
Aoto Y et al.
Kidney International Reports, 2022
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J et al.
Journal of the American Society of Nephrology : Jasn, 2021
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.
Mohammad M et al.
Pediatric Nephrology (berlin, Germany), 2014
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