Article
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Clinical genetics - 1 Nov 2024
Stava Tonje Talsnes, Berge Knut Erik, Haugaa Kristina Hermann, Smedsrud Marit Kristine, Leren Trond P, Bogsrud Martin Prøven
Abstract excerpt
The aim of this study was to explore the prevalence of likely pathogenic or pathogenic variants and assess the diagnostic yield from genetic testing for cardiac arrhythmias in Norway since 2003. Data from 1991 probands and 2782 relatives were retrospectively collected from the laboratory information management system at Unit for Cardiac and Cardiovascular Genetics, Oslo University hospital. Of 1991 probands,...
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