Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.W90*
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PINK1

NM_032409.3:p.W90*

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

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

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

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

Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.

Eggink H et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients.

Spataro N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

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