Varaico: Literature-Extracted Genetic Variants

Gene:ATP10B
Variant:p.L1215_A1216Splc
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ATP10B

NM_025153.3:p.L1215_A1216Splc

Associated Papers

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

Díaz-Belloso R et al.

Parkinsonism & Related Disorders, 2024

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

Smolders S 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."