Varaico: Literature-Extracted Genetic Variants

Gene:SCN4A
Variant:p.A204V
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SCN4A

NM_000334.4:p.A204V

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

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Kokunai Y et al.

Scientific Reports, 2018

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