Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.P95L
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GCH1

NM_000161.3:p.P95L

Associated Papers

Three-Dimensional Gait Analysis as a Biomarker for GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia.

Narahara S et al.

Pediatric Neurology, 2024

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

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

D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia.

Herzfeld T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.

Wu ZY et al.

Clinical Genetics, 2008

[Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene].

Xie H et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006

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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."