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Neubauer, Jacqueline et al. International Journal of Legal Medicine.

Neubauer, Jacqueline et al. International Journal of Legal Medicine. 2016 Feb

Jacqueline Neubauer and colleagues present a whole exome sequencing analysis in Sudden death of healthy young adults (SUD) in order to identify potentially diease-causing mutations. They identified variants in long QT syndrome (LQTS)-associated genes (KCNH2, SCN5A) and also in other two genes involved in mitral valve prolapse and thoracic aortic aneurism (DCHS1, TGFB2).



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"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."

JOHN GARCIA, Invitae
San Francisco, USA

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