Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.

Gardar Sveinbjornsson, Bara D Benediktsdottir,Gunnlaugur Sigfusson,Kristjan Norland,Olafur B Davidsson,Rosa B Thorolfsdottir,Vinicius Tragante,Gudny A Arnadottir,Brynjar O Jensson,Hildigunnur Katrinardottir,Run Fridriksdottir, Hallbera Gudmundsdottir,Hildur M Aegisdottir,Brynjar Fridriksson,Gudmundur Thorgeirsson, Vidar Magnusson,Asmundur Oddsson,Patrick Sulem,Daniel F Gudbjartsson,Hilma Holm,David O Arnar,Kari Stefansson

Journal of the American Heart Association（2023）

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摘要

Background Long-QT syndrome (LQTS) is a cardiac repolarization abnormality that can lead to sudden cardiac death. The most common causes are rare coding variants in the genes KCNQ1KCNH2SCN5AKCNQKCNH2MYBPC3PKP2ISOC1MYOM2.KCNQ1P-7P-10PKCNQ1P-44

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关键词

genetic epidemiology,genetics,long‐QT syndrome,precision medicine

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