Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L561L
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SCN5A

NM_000335.5:p.L561L

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Sobel Naveh NS et al.

Hepatology Communications, 2022

35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.

Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.

Priganc M et al.

Journal of Clinical Laboratory Analysis, 2017

Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.

Millat G et al.

Molecular Diagnosis & Therapy, 2014

Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.

Millat G et al.

Clinical Biochemistry, 2009

Cardiac sodium channel mutation in atrial fibrillation.

Ellinor PT et al.

Heart Rhythm, 2008

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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."