Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.M213V
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GCH1

NM_000161.3:p.M213V

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

First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.

Levy R et al.

Human Mutation, 2011

21898656 (PubMed )
Supplement: supplement_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

Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.

Steinberger D et al.

Neurology, 2000

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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."