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


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Doctor Patricia Alejandra Norambuena

Motol University Hospital, Prague (Czechia)
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5 more presentations in this session

Population based prevalence of Brugada syndrome in a young male population in southeast asia

Speaker: Doctor X. Shen (Singapore, SG)


Systematic re-evaluation of ion channel mutations associated with Brugada syndrome

Speaker: Doctor N. Denham (Liverpool, GB)


A cellular model of Brugada Syndrome with CACNB2 mutation of human-induced pluripotent stem cell-derived cardiomyocytes

Speaker: Mrs T. Schimanski (DE)


10 years of follow-up in carriers of a RyR2 pathogenic mutation with uncertain penetrance. What have we learned?

Speaker: Doctor A. Cardenes Leon (Las Palmas de Gran Canaria, ES)


Novel SCN5A mutation associated with multifocal ectopic purkinje-related premature contractions

Speaker: Mr M. Holl (Rotterdam, NL)


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Arrhythmogenic channelopathies

Speakers: Doctor P. Norambuena, Doctor X. Shen, Doctor N. Denham, Mrs T. Schimanski, Doctor A. Cardenes Leon...

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ESC Congress 2018

25 August - 29 August 2018

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