Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A586_L587del0
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SCN5A

NM_000335.5:p.A586_L587del0

Associated Papers

Autosomal-Recessive LMNA Dilated Cardiomyopathy.

Sterner RM et al.

Jacc. Case Reports, 2026

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.

Suzuki T et al.

Journal of the American Heart Association, 2025

40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS03_het

The role of sodium channels in sudden unexpected death in pediatrics.

Rochtus AM et al.

Molecular Genetics & Genomic Medicine, 2020

32449611 (PubMed )
Supplement: MGG3-8-e1309-s002.xlsx › S1_Table

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.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."