Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.M1I
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GCH1

NM_000161.3:p.M1I

Associated Papers

Atypical presentation of dopa-responsive dystonia in Taiwan.

Weng YC et al.

Brain and Behavior, 2018

Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.

Naiya T et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2012

Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy.

Lee JH et al.

Journal of Korean Medical Science, 2011

Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.

Cao L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2010

[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].

Li J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

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."