Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E446_A447Splc
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SCN5A

NM_000335.5:p.E446_A447Splc

Associated Papers

Brugada syndrome in infants (<12 months): A case report and literature review.

Umapathi KK et al.

Pacing and Clinical Electrophysiology : Pace, 2024

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Kingsmore SF et al.

American Journal of Human Genetics, 2022

36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8

Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.

Yuan M et al.

Frontiers in Cardiovascular Medicine, 2021

Loss-of-function sodium channel mutations in infancy: a pattern unfolds.

Chockalingam P et al.

Circulation, 2012

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."