Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.V324fs
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PRKN

NM_004562.3:p.V324fs

Associated Papers

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Menon PJ et al.

Npj Parkinson's Disease, 2024

38553467 (PubMed )
Supplement: 41531_2024_677_MOESM1_ESM.pdf

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

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S et al.

Annals of Neurology, 2020

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

Oh Y

Bmb Reports, 2019

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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."