Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.S80N
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GCH1

NM_000161.3:p.S80N

Associated Papers

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

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

Rudakou U et al.

Neurobiology of Aging, 2019

Study of GCH1 and TH genes in Chinese patients with Parkinson's disease.

Yan YP et al.

Neurobiology of Aging, 2018

Atypical presentation of dopa-responsive dystonia in Taiwan.

Weng YC et al.

Brain and Behavior, 2018

A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.

Yan YP et al.

The International Journal of Neuroscience, 2017

Rare GCH1 heterozygous variants contributing to Parkinson's disease.

Xu Q et al.

Brain : a Journal of Neurology, 2017

Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.

Cao L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2010

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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."