Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.K224E
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GCH1

NM_000161.3:p.K224E

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

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