Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.E84*
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GCH1

NM_000161.3:p.E84*

Associated Papers

Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.

Lange LM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2026

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.

Weissbach A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.

Dale RC et al.

Developmental Medicine and Child Neurology, 2010

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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."