High-Throughput Reclassification of SCN5A Variants

Glazer, AM; Wada, Y; Li, B; Muhammad, A; Kalash, OR; O'Neill, MJ; Shields, T; Hall, L; Short, L; Blair, MA; Kroncke, BM; Capra, JA; Roden, DM

Roden, DM (corresponding author), Vanderbilt Univ, Vanderbilt Ctr Arrhythmia Res & Therapeut, Dept Med, Div Clin Pharmacol,Med Ctr, Nashville, TN 37232 USA.; Roden, DM (corresponding author), Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA.; Roden, DM (corresponding author), Vanderbilt Univ, Med Ctr, Dept Biomed Informat, Nashville, TN 37232 USA.

AMERICAN JOURNAL OF HUMAN GENETICS, 2020; 107 (1): 111

Abstract

Partial or complete loss-of-function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada syndrome (BrS1). However, ......

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