Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.M129V
Back to variants list

GCH1

NM_000161.3:p.M129V

Associated Papers

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

GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

Cai C et al.

Plos One, 2013

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."