Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.Y75S
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GCH1

NM_000161.3:p.Y75S

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

Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE et al.

Brain : a Journal of Neurology, 2015

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Terbeek J et al.

Brain : a Journal of Neurology, 2015

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Van Hove JL et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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."