Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.P305L
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PINK1

NM_032409.3:p.P305L

Associated Papers

In Silico Analysis of SNPs in PARK2 and PINK1 Genes That Potentially Cause Autosomal Recessive Parkinson Disease.

Bakhit YH et al.

Advances in Bioinformatics, 2016

Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.

Cardona F et al.

Human Mutation, 2011

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

Novel PINK1 mutations in early-onset parkinsonism.

Hatano Y et al.

Annals of Neurology, 2004

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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."