Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.A124V
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PINK1

NM_032409.3:p.A124V

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

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

Marongiu R et al.

Human Mutation, 2008

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