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Discovery of a cryptic founder variant in MYBPC3 associated with hypertrophic cardiomyopathy by promoting the most frequent natural missplicing events

30 August 2024 (08:00 - 17:30)
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Congress Presentation Part of: Deeper insights into cardiomyocyte dysfunction Hypertrophic Cardiomyopathy ESC Professional Premium Access ESC Congress 2024 European Society of Cardiology

About the speaker

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Doctor Maria Gallego Delgado

Complejo Asistencial Universitario de Salamanca, Salamanca (Spain)

9 More presentations in this session

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Pnn deficiency alters expressions of calcium handling proteins and impairs nuclear envelope structure in cardiomyocytes
Professor S. Leu (Kaohsiung, TW)
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Whole-exome sequencing to identify causative variants in cases of sudden cardiac death below 50 years
Miss M. Modena (Pisa, IT)
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Protosappanin a protects DOX-induced myocardial injury and cardiac dysfunction by targeting ACSL4/FTH1 axis-dependent ferroptosis
Professor M. Zhang (Harbin, CN)
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Long-term prognostic value of multiple circulating biomarkers for ventricular arrhythmias in patients with left ventricular hypertrabeculation
Doctor L. Liu (Beijing, CN)
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Myocardial DNA damage is responsible for the relationship between genotype and treatment response in patients with dilated cardiomyopathy
Doctor Z. Dai (Tokyo, JP)
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Access the full session

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Deeper insights into cardiomyocyte dysfunction

The Event

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ESC Congress 2024

30 August - 2 September 2024
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ESC 365 is supported by

novartis Explore sponsored resources

ESC 365 is supported by

novartis Explore sponsored resources