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
Comprehensive functional splicing analysis of non-canonical CNGB3 variants using in vitro minigene splice assays.
Rawnsley K et al.
The Journal of Pathology, 2025
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Brunetti-Pierri R et al.
International Journal of Molecular Sciences, 2021
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