Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A204Splc
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SCN5A

NM_000335.5:p.A204Splc

Associated Papers

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.

Roston TM et al.

Plos One, 2018

30403697 (PubMed )
Supplement: pone.0205925.s002.docx
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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."