Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.I293M
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ATP1A2

NM_000702.4:p.I293M

Associated Papers

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Vetro A et al.

Brain : a Journal of Neurology, 2021

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."