Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.Q34fs
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PRKN

NM_004562.3:p.Q34fs

Associated Papers

VPS13C heterozygous loss of function as a modifier for suboptimal response to levodopa in Parkinson's disease.

Malfer L et al.

Parkinsonism & Related Disorders, 2026

Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.

Anis S et al.

Parkinsonism & Related Disorders, 2025

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Cook L et al.

Brain : a Journal of Neurology, 2024

39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

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

Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings.

Dulski J et al.

Neurologia I Neurochirurgia Polska, 2024

α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease.

Isonaka R et al.

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

Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Lesage S et al.

Annals of Neurology, 2020

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Hengel H et al.

European Journal of Human Genetics : Ejhg, 2020

Exploring the Impact of PARK2 Mutations on the Total and Mitochondrial Proteome of Human Skin Fibroblasts.

Zilocchi M et al.

Frontiers in Cell and Developmental Biology, 2020

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX et al.

Brain : a Journal of Neurology, 2019

31324919 (PubMed )
Supplement: awz191_supplementary_data.pdf

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

Crowgey EL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel

Utility and implications of exome sequencing in early-onset Parkinson's disease.

Trinh J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2019

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.

Germer EL et al.

Frontiers in Neurology, 2019

31920912 (PubMed )
Supplement: Data_Sheet_1.pdf

Genomic instability in the PARK2 locus is associated with Parkinson's disease.

Ambroziak W et al.

Journal of Applied Genetics, 2015

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