Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.L809R
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ATP1A2

NM_000702.4:p.L809R

Associated Papers

Recurrent de novo single point variant on the gene encoding Na+/K+ pump results in epilepsy.

Duan R et al.

Progress in Neurobiology, 2022

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

Moya-Mendez ME et al.

Epilepsy & Behavior : E&b, 2021

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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."