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Author

D. Rossi

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Open access Aug 2026

In-frame exon skipping induced by the c.14510delA variant in RYR1.

RNA splicing is a crucial step in eukaryotic gene expression, ensuring the accurate removal of introns and joining of exons to produce mature transcripts. Mutations that alter canonical splice sites or splicing regulatory elements can profoundly affect this process, resulting in aberrant mRNA species and disease. Genet...

D. Rossi, Valentina Guardascione, Matteo Serano et al. · 0 citations

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