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Genetic variant annotation scores in congenital long QT syndrome
Annals of Noninvasive Electrocardiology ( IF 1.1 ) Pub Date : 2023-08-11 , DOI: 10.1111/anec.13080
Arwa Younis 1, 2 , Christopher Bodurian 1 , Dan E Arking 3 , Nicola Luigi Bragazzi 4 , Chadi Tabaja 2 , Wojciech Zareba 1 , Scott McNitt 1 , Mehmet K Aktas 1 , Bronislava Polonsky 1 , Coeli M Lopes 1 , Nona Sotoodehnia 5 , Peter J Kudenchuk 5 , Ilan Goldenberg 1
Affiliation  

Congenital Long QT Syndrome (LQTS) is a hereditary arrhythmic disorder. We aimed to assess the performance of current genetic variant annotation scores among LQTS patients and their predictive impact.

中文翻译:

先天性长 QT 综合征的遗传变异注释评分

先天性长 QT 综合征 (LQTS) 是一种遗传性心律失常疾病。我们的目的是评估 LQTS 患者当前遗传变异注释评分的表现及其预测影响。
更新日期:2023-08-11
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