Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.C1004R
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SCN5A

NM_000335.5:p.C1004R

Associated Papers

A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population.

Mauleekoonphairoj J et al.

Scientific Reports, 2023

37524845 (PubMed )
Supplement: 41598_2023_39429_MOESM2_ESM.xlsx › Supplementary_table_2

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Bajaj A et al.

Human Genomics, 2022

35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5

Proteomic and functional mapping of cardiac NaV1.5 channel phosphorylation sites.

Lorenzini M et al.

The Journal of General Physiology, 2021

33410863 (PubMed )
Supplement: JGP_202012646_TableS2.pdf

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Son MJ et al.

Journal of Korean Medical Science, 2018

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Jamuar SS et al.

Ebiomedicine, 2016

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."