Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.Q232*
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TH

NM_199292.3:p.Q232*

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

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › TH_Short_Var_Pathogenetic

Identification of TH Variants in Chinese Dopa-Responsive Dystonia Patients and Long-Term Outcomes.

Li XY et al.

Frontiers in Neurology, 2021

Tyrosine hydroxylase deficiency in Taiwanese infants.

Chi CS et al.

Pediatric Neurology, 2012

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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."