Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.V324delFs
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PRKN

NM_004562.3:p.V324delFs

Associated Papers

Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2.

Zanon A et al.

Journal of Translational Medicine, 2024

38229174 (PubMed )
Supplement: 12967_2024_4850_MOESM1_ESM.docx

Indication for molecular testing by multiplex ligation-dependent probe amplification in parkinsonism.

Mutez E et al.

European Journal of Neurology, 2023

Genetic Variations and Neuropathologic Features of Patients with PRKN Mutations.

Seike N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Patient-specific pluripotent stem cell-based Parkinson's disease models showing endogenous alpha-synuclein aggregation.

Oh Y

Bmb Reports, 2019

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
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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."