Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.R198Q
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GCH1

NM_000161.3:p.R198Q

Associated Papers

Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.

Zhou Z et al.

Biorxiv : the Preprint Server for Biology, 2023

38077003 (PubMed )
Supplement: media-6.xlsx › Supplemental_Table_5

Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.

Cronin SJF et al.

Biorxiv : the Preprint Server for Biology, 2023

GCH1 mutations in hereditary spastic paraplegia.

Varghaei P et al.

Clinical Genetics, 2021

GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.

Pan HX et al.

Translational Neurodegeneration, 2020

Rare GCH1 heterozygous variants contributing to Parkinson's disease.

Xu Q et al.

Brain : a Journal of Neurology, 2017

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."