Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.V205A
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GCH1

NM_000161.3:p.V205A

Associated Papers

Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India.

Farsana MK et al.

Journal of Movement Disorders, 2026

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.

Novelli M et al.

Movement Disorders Clinical Practice, 2024

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.

Holla VV et al.

Journal of Movement Disorders, 2022

Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

Bozaci AE et al.

Jimd Reports, 2021

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

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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."