Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.G179delFs
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PRKN

NM_004562.3:p.G179delFs

Associated Papers

The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.

Daida K et al.

Annals of Neurology, 2025

The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson's Disease: a genetic screening study.

Daida K et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

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

New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.

Terreni L et al.

Neurology, 2001

Autosomal recessive juvenile parkinsonism: a key to understanding nigral degeneration in sporadic Parkinson's disease.

Hattori N et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2000

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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."