Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.N52_D53insFs
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PRKN

NM_004562.3:p.N52_D53insFs

Associated Papers

The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Chen YP et al.

European Journal of Neurology, 2022

35861376 (PubMed )
Supplement: supplement_1.pdf

Biomarkers in Parkinson Disease: global gene expression analysis in peripheral blood from patients with and without mutations in PARK2 and PARK8.

Aguiar PM et al.

Einstein (sao Paulo, Brazil), 2010

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Nuytemans K et al.

Human Mutation, 2010

20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf

Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes.

Barsottini OG et al.

Arquivos De Neuro-psiquiatria, 2009

Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients.

Aguiar Pde C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

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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."