Associated Papers
Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.
Yang F et al.
Bmc Medical Genomics, 2024
38956616 (PubMed )
Supplement: 12920_2024_1952_MOESM1_ESM.xlsx › Sheet1
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › Ours_RNA
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