Article
Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine.
Nature reviews. Cardiology - 1 Mar 2026
Glazer Andrew M, Tabet Daniel R, Parikh Victoria N, Kroncke Brett M, Cote Atina G, Yamamoto Yuta, Wang Qianru, Muhammad Ayesha, Lancaster Megan C, O'Neill Matthew J, Weile Jochen, Yang Tao, Macrae Calum A, Ashley Euan A, Roth Frederick P, Roden Dan M
Abstract excerpt
Cardiovascular diseases are leading global causes of death and disability, often presenting as interrelated phenotypes of atherosclerotic vascular disease, heart failure and arrhythmias. Cardiovascular diseases arise from interactions between environmental factors and predisposing genotypes and include common Mendelian lipid disorders, cardiomyopathies and arrhythmia syndromes. The identification of a pathogenic...
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