Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.P153S
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PRKN

NM_004562.3:p.P153S

Associated Papers

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

Martin S et al.

Acta Neuropathologica, 2020

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Chen Y et al.

Frontiers in Pediatrics, 2020

Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease.

Cialfi S et al.

The British Journal of Dermatology, 2010

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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."