Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.Y258*
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PINK1

NM_032409.3:p.Y258*

Associated Papers

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Step K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445612 (PubMed )
Supplement: media-1.pdf

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Yin EP et al.

Journal of Parkinson's Disease, 2025

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Towns C et al.

Npj Parkinson's Disease, 2024

Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson's Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature.

Gunasekaran A et al.

Journal of Movement Disorders, 2024

39294919 (PubMed )
Supplement: jmd-24157-Supplementary-Table-1.pdf

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.

Kasten M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Early-Onset Parkinsonism: Case Report and Review of the Literature.

Al-Rumayyan A et al.

Pediatric Neurology, 2017

Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.

Haylett WL et al.

Parkinsonism & Related Disorders, 2012

Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes.

Crosiers D et al.

Journal of Chemical Neuroanatomy, 2011

Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.

Keyser RJ et al.

Biochemical and Biophysical Research Communications, 2010

Analysis of exon dosage using MLPA in South African Parkinson's disease patients.

Keyser RJ et al.

Neurogenetics, 2010

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

Biochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1).

Mills RD et al.

Journal of Neurochemistry, 2008

PINK1 mutations in sporadic early-onset Parkinson's disease.

Tan EK et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2006

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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."