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

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A

Parkinsonism & Related Disorders, 2013

Recent advances in the genetics of Parkinson's disease.

Martin I et al.

Annual Review of Genomics and Human Genetics, 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
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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."