Associated Papers
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM3_ESM.xlsx › Table_2_RNA_studies__n_58_
Functional hyperactivity in long QT syndrome type 1 pluripotent stem cell-derived sympathetic neurons.
Winbo A et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2021
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.
Leong IUS et al.
Journal of Clinical Medicine Research, 2017
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