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
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
Zhang R et al.
Molecular Genetics & Genomic Medicine, 2024
Donor Splice Site Variant in SLC9A6 Causes Christianson Syndrome in a Lithuanian Family: A Case Report.
Petraitytė G et al.
Medicina (kaunas, Lithuania), 2022
Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.
Lv X et al.
Cytogenetic and Genome Research, 2020
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.
Mastrangelo A et al.
Frontiers in Medicine, 2020
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière V et al.
Journal of the American Society of Nephrology : Jasn, 2014
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