Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.T209I
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GCH1

NM_000161.3:p.T209I

Associated Papers

Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.

Cronin SJF et al.

Biorxiv : the Preprint Server for Biology, 2023

Deep brain stimulation shows high efficacy in two patients with GCH1 variants.

Daida K et al.

Parkinsonism & Related Disorders, 2019

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

Yoshino H et al.

Journal of Neurology, 2018

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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."