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The importance of variant re-evaluation in massive parallel sequencing: results from hypertrophic cardiomyopathy genetic testing as an example

25 August 2018 (00:00 - 00:00)
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Congress Presentation Part of: Arrhythmogenic channelopathies Other Genetic Variants ESC Premium Access ESC Congress 2018

About the speaker

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Doctor Patricia Alejandra Norambuena

Motol University Hospital, Prague (Czechia)

5 More presentations in this session

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Population based prevalence of Brugada syndrome in a young male population in southeast asia
Doctor X. Shen (Singapore, SG)
Abstract Slides Video
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Systematic re-evaluation of ion channel mutations associated with Brugada syndrome
Doctor N. Denham (Liverpool, GB)
Abstract Slides Video
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A cellular model of Brugada Syndrome with CACNB2 mutation of human-induced pluripotent stem cell-derived cardiomyocytes
Mrs T. Schimanski (DE)
Abstract Slides Video
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10 years of follow-up in carriers of a RyR2 pathogenic mutation with uncertain penetrance. What have we learned?
Doctor A. Cardenes Leon (Las Palmas de Gran Canaria, ES)
Abstract Slides Video
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Novel SCN5A mutation associated with multifocal ectopic purkinje-related premature contractions
Mr M. Holl (Rotterdam, NL)
Abstract Slides Video

Access the full session

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Arrhythmogenic channelopathies

The Event

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ESC Congress 2018

25 August - 29 August 2018
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ESC 365 is supported by

novartis Explore sponsored resources