Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.T227I
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GCH1

NM_000161.3:p.T227I

Associated Papers

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

D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia.

Herzfeld T et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

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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."