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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N et al.
Human Mutation, 2020
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Mayer AK et al.
Human Mutation, 2017
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S et al.
European Journal of Human Genetics : Ejhg, 2005
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