Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.E957*
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ATP1A2

NM_000702.4:p.E957*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns.

Haj Mohammad Hassani B et al.

Neurogenetics, 2024

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Chatron N et al.

Brain : a Journal of Neurology, 2019

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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."