Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q57_N58Splc
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PRKN

NM_004562.3:p.Q57_N58Splc

Associated Papers

The Influence of Genetics in the Early Development of Axial Postural Abnormalities in Parkinson's Disease.

Vico IAD et al.

Movement Disorders Clinical Practice, 2026

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672482 (PubMed )
Supplement: media-1.pdf

Genetic Architecture of Parkinson's Disease.

Shadrina MI et al.

Biochemistry. Biokhimiia, 2023

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.

Angeli A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.

McNeill A et al.

Plos One, 2013

The neuropathology of genetic Parkinson's disease.

Poulopoulos M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.

Dos Santos AV et al.

Neuroscience Letters, 2010

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Harville HM et al.

Journal of Medical Genetics, 2010

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Aharon-Peretz J et al.

The New England Journal of Medicine, 2004

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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."