Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R121Q
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SCN5A

NM_000335.5:p.R121Q

Associated Papers

Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.

Özoğul E et al.

Blood Cancer Journal, 2024

39313500 (PubMed )
Supplement: 41408_2024_1146_MOESM2_ESM.xlsx › S12

Genetic variants in Colombian patients with inherited cardiac conditions.

Rucinski C et al.

Molecular Genetics & Genomic Medicine, 2022

Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study.

Lu F et al.

Orphanet Journal of Rare Diseases, 2022

Life-Threatening Ventricular Arrhythmia Induced by Atrial Tachycardia in a Child with an SCN5A Mutation.

Silva MA et al.

Arquivos Brasileiros De Cardiologia, 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 › S13

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?

Liu C et al.

Forensic Science International, 2014

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

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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."