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_
Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene.
Surikova Y et al.
Gene, 2019
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