Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.A206_E207Splc
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PRKN

NM_004562.3:p.A206_E207Splc

Associated Papers

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

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

Interaction between Parkin and α-Synuclein in PARK2-Mediated Parkinson's Disease.

Madsen DA et al.

Cells, 2021

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

Schneider SA et al.

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

A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics.

Cornejo-Olivas MR et al.

Parkinsonism & Related Disorders, 2015

Clinical aspects of urea transporters.

Ran J et al.

Sub-cellular Biochemistry, 2014

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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."