Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.H210Q
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GCH1

NM_000161.3:p.H210Q

Associated Papers

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

41058593 (PubMed )
Supplement: awaf379_supplementary_data.zip › brain-2025-00177-File011.xlsx › SupplementaryTable7

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

A novel missense mutation in GCH1 gene in a Korean family with Segawa disease.

Kim JI et al.

Brain & Development, 2015

A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia.

Chang MS et al.

Annals of Clinical and Laboratory Science, 2015

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.

De Rosa A et al.

Journal of Neurology, 2007

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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."