Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.R597P
Back to variants list

ATP1A3

NM_152296.5:p.R597P

Associated Papers

The Phenotypic Continuum of ATP1A3-Related Disorders.

Vezyroglou A et al.

Neurology, 2022

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

Yu L et al.

Frontiers in Aging Neuroscience, 2022

35978945 (PubMed )
Supplement: Table_1.XLSX › Sheet3

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

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.

Wang W et al.

Frontiers in Cell and Developmental Biology, 2021

Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population.

Kim WJ et al.

Journal of Clinical Neurology (seoul, Korea), 2020

A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.

Wenzel GR et al.

Parkinsonism & Related Disorders, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."