Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V1098L
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SCN5A

NM_198056.3:p.V1098L

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

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › -2_position

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.

Zhang L et al.

Mayo Clinic Proceedings, 2016

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."