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Article

Systematic re-evaluation of SCN5A variants associated with Brugada syndrome.

Journal of cardiovascular electrophysiology - 1 Jan 2019

Denham Nathan C, Pearman Charles M, Ding Wern Yew, Waktare Johan, Gupta Dhiraj, Snowdon Richard, Hall Mark, Cooper Robert, Modi Simon, Todd Derick, Mahida Saagar

Abstract excerpt

BACKGROUND: A large number of SCN5A variants have been reported to underlie Brugada syndrome (BrS). However, the evidence supporting individual variants is highly heterogeneous. OBJECTIVE: We systematically re-evaluated all SCN5A variants reported in BrS using the 2015 American college of medical genetics and genomics and the association for molecular pathology (ACMG-AMP) guidelines. METHODS: A PubMed/Embase...

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Identifiers

PMID: 30203441
DOI: 10.1111/jce.13740

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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