Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.E2*
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GCH1

NM_000161.3:p.E2*

Associated Papers

Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.

Yu L et al.

European Journal of Human Genetics : Ejhg, 2013

Molecular genetics of dopa-responsive dystonia.

Ichinose H et al.

Biological Chemistry, 1999

[The relation between metabolism of biopterin and dystonia-parkinsonism].

Ichinose H et al.

Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 1999

Molecular genetics of DOPA-responsive dystonia.

Ichinose H et al.

Advances in Neurology, 1999

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Thöny B et al.

Human Mutation, 1997

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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."