Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A291Splc
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PRKN

NM_004562.3:p.A291Splc

Associated Papers

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Understanding Parkinson disease in Spain: Genetic and clinical insights.

Gómez-Garre P et al.

European Journal of Neurology, 2025

39498811 (PubMed )
Supplement: ENE-32-e16499-s008.xlsx › Hoja1

Parkinson's Disease Gene Screening in Familial Cases from Central and South America.

Lorenzo-Betancor O et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S et al.

Annals of Neurology, 2020

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

Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.

Chien HF et al.

Neurogenetics, 2006

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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."