Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R120Q
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PINK1

NM_032409.3:p.R120Q

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-4-pkn-10.1177_1877718x241304814.xlsx › Unaffected_carriers_of_PINK1

Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.

Cantarero L et al.

Biology Open, 2023

Structure of PINK1 in complex with its substrate ubiquitin.

Schubert AF et al.

Nature, 2017

The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease.

Palau F et al.

Advances in Experimental Medicine and Biology, 2009

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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."