Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.G671R
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ATP10B

NM_025153.3:p.G671R

Associated Papers

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

Díaz-Belloso R et al.

Parkinsonism & Related Disorders, 2024

The lipid flippase ATP10B enables cellular lipid uptake under stress conditions.

Wouters R et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2024

Recent advances in novel mutation genes of Parkinson's disease.

Yang J et al.

Journal of Neurology, 2023

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

Smolders S 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

Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism.

Smolders S et al.

Acta Neuropathologica, 2020

Segregation of ATP10B variants in families with autosomal recessive parkinsonism.

Tesson C et al.

Acta Neuropathologica, 2020

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

Martin S et al.

Acta Neuropathologica, 2020

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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."