Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R207Q
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PINK1

NM_032409.3:p.R207Q

Associated Papers

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

41413081 (PubMed )
Supplement: 41531_2025_1192_MOESM1_ESM.pdf

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

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

Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.

Panteghini C et al.

Parkinsonism & Related Disorders, 2023

Systematic Functional Analysis of PINK1 and PRKN Coding Variants.

Broadway BJ et al.

Cells, 2022

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Benitez BA et al.

Molecular Neurodegeneration, 2016

Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.

Scornaienchi V et al.

Parkinsonism & Related Disorders, 2012

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