Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.E78D
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SCN5A

NM_000335.5:p.E78D

Associated Papers

Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels.

Ahangar AA et al.

Biorxiv : the Preprint Server for Biology, 2023

37781633 (PubMed )
Supplement: media-1.pdf

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

Nabbout R et al.

Neurology, 2003

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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."