Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.A809P
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ATP1A3

NM_152296.5:p.A809P

Associated Papers

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

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
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