Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.T276P
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TH

NM_199292.3:p.T276P

Associated Papers

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

Escape from homeostasis.

Nijhout HF et al.

Mathematical Biosciences, 2014

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

Fossbakk A et al.

Human Mutation, 2014

Computational study of human tyrosine hydroxylase mutants to uphold [4-(Propan-2-yl) Phenyl]Carbamic acid as a potential inhibitor.

Nawaz MS et al.

Cns & Neurological Disorders Drug Targets, 2014

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

Willemsen MA et al.

Brain : a Journal of Neurology, 2010

Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.

Royo M et al.

Proteins, 2005

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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."