Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.G30R
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PARK7

NM_007262.5:p.G30R

Associated Papers

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.

Nuytemans K et al.

Human Mutation, 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."