Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.R145C
Back to variants list

PARK7

NM_007262.5:p.R145C

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

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."