Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.Q534*
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ATP13A2

NM_022089.4:p.Q534*

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders.

Ambrosini E et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Cervical Dystonia Caused by Variant of ATP13A2 Responsive to Subthalamic Deep Brain Stimulation.

Zhao M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1
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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."