Varaico: Literature-Extracted Genetic Variants

Gene:TECRL
Variant:p.R196Q
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TECRL

NM_001010874.5:p.R196Q

Associated Papers

Novel Biallelic TECRL Gene Variants Associated with Familial Catecholaminergic Polymorphic Ventricular Tachycardia in a Chinese Family with a History of Sudden Cardiac Death.

Li R et al.

The Tohoku Journal of Experimental Medicine, 2025

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia.

Porretta AP et al.

Jacc. Clinical Electrophysiology, 2025

Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.

Schneider L et al.

Journal of the American Heart Association, 2025

Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia.

Chen Y et al.

Frontiers in Pediatrics, 2025

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.

Manjunath U et al.

Frontiers in Neuroscience, 2025

41262473 (PubMed )
Supplement: Table_1.XLSX › Sheet2

Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.

Jones D et al.

Life Science Alliance, 2024

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

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.

Leung J et al.

Life (basel, Switzerland), 2022

Generation of an induced pluripotent stem cell line from a Chinese Han child with catecholaminergic polymorphic ventricular tachycardia.

Liu W et al.

Stem Cell Research, 2022

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.

Hou C et al.

Communications Biology, 2022

35577932 (PubMed )
Supplement: 42003_2022_3414_MOESM1_ESM.pdf

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_8

Life-threatening arrhythmias with autosomal recessive TECRL variants.

Webster G et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM17_ESM.xlsx › Supplementary_Table_S16

Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.

Song J et al.

Frontiers in Pharmacology, 2021

A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.

Xie L et al.

European Journal of Medical Genetics, 2019

Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies.

Brandão KO et al.

Disease Models & Mechanisms, 2017

TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.

Devalla HD et al.

Embo Molecular Medicine, 2016

Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.

Siu A et al.

Annals of Pediatric Cardiology, 0

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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."