Varaico: Literature-Extracted Genetic Variants

Gene:TRDN
Variant:p.G8Splc
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TRDN

NM_006073.4:p.G8Splc

Associated Papers

Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.

Li Q et al.

Reviews in Cardiovascular Medicine, 2025

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.

Zaffran S et al.

International Journal of Molecular Sciences, 2023

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 1_Supplementary_table_S1.xlsx › Suppl_tab_1

Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.

Song J et al.

Frontiers in Pharmacology, 2021

Phenotype-guided whole genome analysis in a patient with genetically elusive long QT syndrome yields a novel TRDN-encoded triadin pathogenetic substrate for triadin knockout syndrome and reveals a novel primate-specific cardiac TRDN transcript.

Clemens DJ et al.

Heart Rhythm, 2020

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

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

Rooryck C et al.

Journal of Cardiovascular Electrophysiology, 2015

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome.

Altmann HM et al.

Circulation, 2015

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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."