Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A572V
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SCN5A

NM_000335.5:p.A572V

Associated Papers

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.

Ma JG et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Huang W et al.

Protein & Cell, 2017

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E et al.

Plos One, 2015

26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1
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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."