Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.G864R
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ATP1A1

NM_000701.8:p.G864R

Associated Papers

Domain-specific mutations in Na+/K+-ATPase α subunit differentially regulate sleep and circadian rhythms in Drosophila.

Chen W et al.

Experimental Neurology, 2026

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

Dohrn MF et al.

Annals of Clinical and Translational Neurology, 2024

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.

Dohrn MF et al.

Neurology, 2022

Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.

Biondo ED et al.

American Journal of Physiology. Cell Physiology, 2021

ATP1A1 de novo Mutation-Related Disorders: Clinical and Genetic Features.

Lin Z et al.

Frontiers in Pediatrics, 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."