Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.V226A
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GCH1

NM_000161.3:p.V226A

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

[Causative gene and its associated gene for Parkinson disease and dystonia].

Hasegawa K et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

Thöny B et al.

Human Mutation, 2006

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.

Klein C et al.

Neurology, 2002

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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."