Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.N9fs
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TRDN

NM_006073.4:p.N9fs

Associated Papers

Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes.

Clemens DJ et al.

Stem Cell Reports, 2023

Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome.

Rabbani B et al.

American Journal of Medical Genetics. Part A, 2021

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.

Clemens DJ et al.

Circulation. Genomic and Precision Medicine, 2020

Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation.

Sarquella-Brugada G et al.

Frontiers in Pediatrics, 2020

International Triadin Knockout Syndrome Registry.

Clemens DJ et al.

Circulation. Genomic and Precision Medicine, 2019

Calcium Revisited: New Insights Into the Molecular Basis of Long-QT Syndrome.

Giudicessi JR et al.

Circulation. Arrhythmia and Electrophysiology, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."