Associated Papers
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Dueñas Rey A et al.
Genome Medicine, 2024
38184646 (PubMed )
Supplement: 13073_2023_1277_MOESM1_ESM.xlsx › Table_S11
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Joynt AT et al.
Plos Genetics, 2020
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