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. 2013 Oct 17;51(1):35–44. doi: 10.1136/jmedgenet-2013-101917

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions

This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 3.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/3.0/

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Genetic variation in cohorts with inherited arrhythmia syndromes. RYR2 or SCN5A were sequenced in 2266 patients with an inherited arrhythmia syndrome, as shown. Three hundred and fifty-seven variants were identified in 511 patients, of which 153 were novel missense variants. In the absence of segregation or functional data, these would typically be reported as variants of unknown significance. However, paralogue annotation provided additional information for 65 (36%) variants, that would further inform a clinical genetic report. BrS, Brugada syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia.