Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A166T
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SCN5A

NM_000335.5:p.A166T

Associated Papers

Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.

Hurst ZA et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

High-Throughput Reclassification of SCN5A Variants.

Glazer AM et al.

American Journal of Human Genetics, 2020

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

Christiansen SL et al.

European Journal of Human Genetics : Ejhg, 2016

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR et al.

Journal of Medical Genetics, 2013

23396983 (PubMed )
Supplement: jmedgenet-2012-101270-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."