Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.A813V
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ATP1A3

NM_152296.5:p.A813V

Associated Papers

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs.

Yoldaş Çelik M et al.

Jimd Reports, 2026

Genetic Update and Treatment for Dystonia.

Koptielow J et al.

International Journal of Molecular Sciences, 2024

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Pavone P et al.

Medicine, 2022

ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.

Yu L et al.

Frontiers in Aging Neuroscience, 2022

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

34612482 (PubMed )
Supplement: dmm-14-048938-s1.pdf

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

Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases.

Shrivastava AN et al.

Neuropharmacology, 2020

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.

Chaumette B et al.

Molecular Psychiatry, 2020

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