Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.R249G
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GCH1

NM_000161.3:p.R249G

Associated Papers

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

Retrospective chart review of inherited and idiopathic dystonia.

Alakkas A et al.

Frontiers in Genetics, 2025

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

Thomsen M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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