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Article

Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.

Life science alliance - 1 Aug 2024

Jones Douglas, Hartung Jacob, Lasalle Elizabeth, Borquez Alejandro, Murillo Viridiana, Guidugli Lucia, James Kiely N, Kingsmore Stephen F, Coufal Nicole G

Abstract excerpt

Pathogenic and likely pathogenic variants in the TECRL gene are known to be associated with recessive catecholaminergic polymorphic ventricular tachycardia 3, which can include prolonged QT intervals (MIM#614021). We report a case of cardiac arrest in a previously healthy adolescent male in the community. The patient was found to have a novel maternally inherited likely pathogenic variant in TECRL (c.915T>G...

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Source

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Identifiers

PMID: 38777371
DOI: 10.26508/lsa.202402572
PMCID: PMC11111969

Genes

TECRL

Variants

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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