Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.S114S
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GCH1

NM_000161.3:p.S114S

Associated Papers

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

Dopa-responsive dystonia: a clinical and molecular genetic study.

Bandmann O et al.

Annals of Neurology, 1998

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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."