Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A46S
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PRKN

NM_004562.3:p.A46S

Associated Papers

Capturing the catalytic intermediates of parkin ubiquitination.

Connelly EM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

Genetic screening of Filipinos suspected with familial Parkinson's disease: A pilot study.

Caritativo ECA et al.

Parkinsonism & Related Disorders, 2023

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

Meeus B et al.

Neurobiology of Aging, 2012

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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."