Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.L815R
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ATP1A3

NM_001256214.2:p.L815R

Associated Papers

Retrospective chart review of inherited and idiopathic dystonia.

Alakkas A et al.

Frontiers in Genetics, 2025

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.

Smith RS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34161264 (PubMed )
Supplement: pnas.2023333118.sapp.pdf

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Salles PA et al.

Frontiers in Neurology, 2021

Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant.

Zúñiga-Ramírez C et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 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."