Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R246Q
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PINK1

NM_032409.3:p.R246Q

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

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

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

Koros C et al.

Genes, 2023

Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.

Kablan A et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2023

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

Evaluation of PINK1 variants in Indian Parkinson's disease patients.

Biswas A et al.

Parkinsonism & Related Disorders, 2010

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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."