Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.D297delFs
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PINK1

NM_032409.3:p.D297delFs

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

Genetic Study of Early Onset Parkinson's Disease in Cyprus.

Abu Manneh R et al.

International Journal of Molecular Sciences, 2022

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

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

Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease.

Savettieri G et al.

Parkinsonism & Related Disorders, 2008

Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease.

Quattrone A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

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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."