Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.T112A
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GCH1

NM_000161.3:p.T112A

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

Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.

Furukawa Y et al.

Brain : a Journal of Neurology, 2015

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Cilia R et al.

Neurology, 2014

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE et al.

Brain : a Journal of Neurology, 2014

[Dystonia preceding dopa-responsive parkinsonism--heterogeneous clinical features].

Miwa H et al.

No to Shinkei = Brain and Nerve, 1996

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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."