Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.I1222T
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ATP10B

NM_025153.3:p.I1222T

Associated Papers

Role of ATP10B in Parkinson disease in a cohort from southern Spain.

Díaz-Belloso R et al.

Parkinsonism & Related Disorders, 2024

ATP10B variants in Parkinson's disease: a large cohort study in Chinese mainland population.

Zhao Y et al.

Acta Neuropathologica, 2021

ATP10B and the Risk for Early-Onset Parkinson's Disease.

Li C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

Martin S et al.

Acta Neuropathologica, 2020

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

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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."