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JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2016, Volume 67, Issue 9, pp. 1053 - 1058
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2014, Volume 63, Issue 13, pp. 1300 - 1308
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 12/2016, Volume 68, Issue 23, pp. 2540 - 2550
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 1835 - 1846
Variant interpretation for the diagnosis of genetic diseases is a complex process. The American College of Medical Genetics and Genomics, with the Association... 
variant | guidelines | ACMG | Decision support system | interpretation | STANDARDS | SEQUENCE VARIANTS | CLASSIFICATION | CLINICAL INTERPRETATION | DATABASE | GENETICS | RECOMMENDATIONS | GENETICS & HEREDITY | CANCER SUSCEPTIBILITY | MUTATIONS | ASSOCIATION | Practice guidelines (Medicine) | Diagnosis | Cardiovascular diseases | Biomedical engineering | Pathogenicity | Automation | Internet | AMP
Journal Article
Journal Article
Circulation, ISSN 0009-7322, 11/2018, Volume 138, Issue Suppl_1 Suppl 1, pp. A16322 - A16322
IntroductionThe utility of extended genetic screening and the long-term follow-up of patients who survive an episode of idiopathic ventricular fibrillation... 
Journal Article
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2016, Volume 68, Issue 23, pp. 2540 - 2550
Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a leading cause of sudden cardiac death, but its progression over time and... 
Cardiovascular | Internal Medicine | athletes | genetics | sudden cardiac death | ventricular tachycardia | implantable cardioverter-defibrillator | Heart | Cardiology | Cardiomyopathy | Heart diseases | Biomedical engineering
Journal Article
Journal Article
Cell, ISSN 0092-8674, 06/2003, Volume 113, Issue 7, pp. 829 - 840
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 08/2001, Volume 276, Issue 33, pp. 30623 - 30630
Defects of the SCN5A gene encoding the cardiac sodium channel α-subunit are associated with both the long QT-3 (LQT-3) subtype of long-QT syndrome and Brugada... 
DIAGNOSIS | THERAPY | NA+ CHANNEL | ALPHA-SUBUNIT | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOLECULAR MECHANISM | DEATH | SCN5A | ST-SEGMENT ELEVATION | LQT-3 MUTATION | ARRHYTHMIA | Phenotype | Humans | Long QT Syndrome - genetics | Sodium Channels - genetics | Sodium Channels - physiology | Mutation | NAV1.5 Voltage-Gated Sodium Channel | Heart Block - genetics
Journal Article
Frontiers in cardiovascular medicine, ISSN 2297-055X, 2016, Volume 3, p. 29
Journal Article