Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.I758F
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ATP1A3

NM_152296.5:p.I758F

Associated Papers

Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.

Haq IU et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.

Haq IU et al.

Parkinsonism & Related Disorders, 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

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.

Arystarkhova E et al.

Neurobiology of Disease, 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."