Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.L461R
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PINK1

NM_032409.3:p.L461R

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

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

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

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

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

Marongiu R et al.

Human Mutation, 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."