Associated Papers
Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome - Insights Into Splice Error Correction.
Jinzai H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2025
SCN5A variant type-dependent risk prediction in Brugada syndrome.
Aizawa T et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
39931825 (PubMed )
Supplement: euaf024_supplementary_data.pdf
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.
O'Neill MJ et al.
Nature Communications, 2024
ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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