Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.G217V
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GCH1

NM_000161.3:p.G217V

Associated Papers

Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.

Cronin SJF et al.

Biorxiv : the Preprint Server for Biology, 2023

37214873 (PubMed )
Supplement: media-1.pdf

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

GCH1 mutations in hereditary spastic paraplegia.

Varghaei P et al.

Clinical Genetics, 2021

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE et al.

Brain : a Journal of Neurology, 2014

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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."