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Author

Juan Pablo Ochoa

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Open access Sep 2026

Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy.

BACKGROUND Disruption of MYBPC3 precursor mRNA splicing is a frequent genetic cause of hypertrophic cardiomyopathy (HCM). Most often, it reflects changes at canonical sites or the creation of novel splice sites. Prediction tools usually prioritize splice variants with lower efficiency when they are distant from canonic...

M. Gallego-Delgado, S. L. Lorenzo Hernández, Soledad García Hernández et al. · 0 citations
Sep 2026

Arrhythmic Risk Stratification According to LGE Corridors and Genetics in Nonischemic Dilated Cardiomyopathy.

These findings support MVA multiparametric prediction over the traditional left ventricular ejection fraction ≤35% threshold and allow clinically meaningful arrhythmic risk classification in patients with nonischemic dilated cardiomyopathy.

Noemí Ramos-López, N. Mora-Ayestarán, Juan Pablo Ochoa et al. · 0 citations

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