Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.L82P
Back to variants list

GCH1

NM_000161.3:p.L82P

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

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."