Varaico: Literature-Extracted Genetic Variants

Gene:SNTA1
Variant:p.G54R
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SNTA1

NM_003098.3:p.G54R

Associated Papers

Genetic Testing in Brugada Syndrome: A 30-Year Experience.

Pannone L et al.

Circulation. Arrhythmia and Electrophysiology, 2024

38426305 (PubMed )
Supplement: circae_circae-2023-012374_supp1.pdf

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

Sarquella-Brugada G et al.

Human Genetics, 2022

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_

Diseases caused by mutations in Nav1.5 interacting proteins.

Kyle JW et al.

Cardiac Electrophysiology Clinics, 2014

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac ion channel mutations in the sudden infant death syndrome.

Klaver EC et al.

International Journal of Cardiology, 2011

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Wilde AA et al.

Circulation Research, 2011

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

Cheng J et al.

Circulation. Arrhythmia and Electrophysiology, 2009

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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."