Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.T370M
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SCN5A

NM_000335.5:p.T370M

Associated Papers

The role of genetic testing in the prevention, diagnosis, and prognosis of sudden cardiac arrest in children.

Blich M et al.

Journal of Arrhythmia, 2023

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

Genomic Autopsy of Sudden Deaths in Young Individuals.

Webster G et al.

Jama Cardiology, 2021

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4

Atrial Fibrillation in Long QT Syndrome by Genotype.

Platonov PG et al.

Circulation. Arrhythmia and Electrophysiology, 2019

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.

Al-Hassnan ZN et al.

Heart Rhythm, 2017

Whole‑exome sequencing identifies a novel mutation (R367G) in SCN5A to be associated with familial cardiac conduction disease.

Yu R et al.

Molecular Medicine Reports, 2017

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Huang W et al.

Protein & Cell, 2017

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV et al.

Genetic Testing and Molecular Biomarkers, 2013

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.

Behr ER et al.

European Heart Journal, 2008

High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia.

Hofman-Bang J et al.

Clinical Genetics, 2006

Heritability in genetic heart disease: the role of genetic background.

Jansweijer JA et al.

Open Heart, 0

31245010 (PubMed )
Supplement: openhrt-2018-000929supp001.pdf
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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."