Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.N273S
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PINK1

NM_032409.3:p.N273S

Associated Papers

Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.

González-Casacuberta I et al.

Frontiers in Neuroscience, 2019

Polyubiquitination of apurinic/apyrimidinic endonuclease 1 by Parkin.

Scott TL et al.

Molecular Carcinogenesis, 2017

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

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

Lesage S et al.

Journal of Medical Genetics, 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."