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Article

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

Journal of cardiovascular electrophysiology - 1 Jan 2018

Kaltman Jonathan R, Evans Frank, Fu Yi-Ping

Abstract excerpt

INTRODUCTION: Genetic testing for congenital long QT syndrome (LQTS) has become common. Recent studies have shown that some variants labelled as pathogenic might be misclassified due to sparse case reports and relatively common allele frequencies (AF) in the general population. This study aims to evaluate the presence of LQTS-associated variants in the Genome Aggregation Database (gnomAD) population, and assess...

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Source

Open in PubMed Open full text

Identifiers

PMID: 28988457
DOI: 10.1111/jce.13355
PMCID: PMC5777879

Genes

KCNH2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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