Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.R129*
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TH

NM_199292.3:p.R129*

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

Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia-A Focus on Tyrosine Hydroxylase Deficiency.

Nygaard G et al.

Journal of Personalized Medicine, 2021

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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."