Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D525insFs
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PINK1

NM_032409.3:p.D525insFs

Associated Papers

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

39973502 (PubMed )
Supplement: sj-xlsx-2-pkn-10.1177_1877718x241304814.xlsx › Total_PINK1_cases

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

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.

McNeill A et al.

Plos One, 2013

Novel features in a patient homozygous for the L347P mutation in the PINK1 gene.

Doostzadeh J et al.

Parkinsonism & Related Disorders, 2007

Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.

Zadikoff C et al.

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

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C et al.

European Journal of Human Genetics : Ejhg, 2005

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Bonifati V et al.

Neurology, 2005

Novel PINK1 mutations in early-onset parkinsonism.

Hatano Y et al.

Annals of Neurology, 2004

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.

Rohé CF et al.

Annals of Neurology, 2004

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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."