Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.T209P
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GCH1

NM_000161.3:p.T209P

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

Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.

Camargos ST et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2008

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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."