Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.R233C
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TH

NM_199292.3:p.R233C

Associated Papers

Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.

Ban T 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

Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.

Yang M et al.

Nature Communications, 2019

30944321 (PubMed )
Supplement: 41467_2019_9469_MOESM5_ESM.xlsx › ST2
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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."