Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.V205E
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GCH1

NM_000161.3:p.V205E

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

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › GCH1_Short_Variants_Pathogeneti

GCH1 mutations in hereditary spastic paraplegia.

Varghaei P et al.

Clinical Genetics, 2021

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

Naiya T et al.

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

[Causative gene and its associated gene for Parkinson disease and dystonia].

Hasegawa K et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2009

Serum prolactin in symptomatic and asymptomatic dopa-responsive dystonia due to a GCH1 mutation.

Furukawa Y et al.

Neurology, 2003

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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."