Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.R145H
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PARK7

NM_007262.5:p.R145H

Associated Papers

Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease.

Anjum F et al.

Journal of Personalized Medicine, 2022

35207708 (PubMed )
Supplement: jpm-12-00220-s001.zip › jpm-1518127-supplementary.pdf

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.

van der Weijden MCM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

33200438 (PubMed )
Supplement: MDS-36-729-s002.docx

Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.

Moura KC et al.

Disease Markers, 2013

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."