Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.E2G
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GCH1

NM_000161.3:p.E2G

Associated Papers

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

Association of GCH1 polymorphism with Parkinson disease susceptibility: A meta-analysis.

Wang J et al.

Medicine, 2025

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.

Weissbach A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Common and rare GCH1 variants are associated with Parkinson's disease.

Rudakou U et al.

Neurobiology of Aging, 2019

GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.

Yoshino H et al.

Journal of Neurology, 2018

Atypical presentation of dopa-responsive dystonia in Taiwan.

Weng YC et al.

Brain and Behavior, 2018

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.

Lewthwaite AJ et al.

Parkinsonism & Related Disorders, 2015

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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."