Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.A210T
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TH

NM_000360.4:p.A210T

Associated Papers

Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency.

de Gusmao CM et al.

Movement Disorders Clinical Practice, 2025

Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.

Jung-Klawitter S et al.

Journal of Inherited Metabolic Disease, 2024

Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

Fossbakk A et al.

Human Mutation, 2014

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

Willemsen MA et al.

Brain : a Journal of 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."