Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.R1250Q
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SCN10A

NM_006514.4:p.R1250Q

Associated Papers

The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.

Begovic M et al.

International Journal of Molecular Sciences, 2024

Brugada Syndrome: More than a Monogenic Channelopathy.

Liantonio A et al.

Biomedicines, 2023

Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.

Melgari D et al.

International Journal of Molecular Sciences, 2023

Lipopolysaccharide Modifies Sodium Current Kinetics through ROS and PKC Signalling in Induced Pluripotent Stem-Derived Cardiomyocytes from Brugada Syndrome Patient.

Liao Z et al.

Journal of Cardiovascular Development and Disease, 2022

Brugada Syndrome: Different Experimental Models and the Role of Human Cardiomyocytes From Induced Pluripotent Stem Cells.

Li Y et al.

Journal of the American Heart Association, 2022

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Iop L et al.

Cells, 2021

iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives.

Nijak A et al.

International Journal of Molecular Sciences, 2021

Brugada Syndrome: Oligogenic or Mendelian Disease?

Monasky MM et al.

International Journal of Molecular Sciences, 2020

A cellular model of Brugada syndrome with SCN10A variants using human-induced pluripotent stem cell-derived cardiomyocytes.

El-Battrawy I 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, 2019

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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."