Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.R410W
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TH

NM_000360.4:p.R410W

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 deficiency in a child initially misdiagnosed as cerebral palsy combined with epilepsy.

Qi X et al.

Acta Neurologica Belgica, 2024

A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.

Yan YP et al.

The International Journal of Neuroscience, 2017

Adrenergic polymorphism and the human stress response.

Rao F et al.

Annals of the New York Academy of Sciences, 2008

Tyrosine hydroxylase, the rate-limiting enzyme in catecholamine biosynthesis: discovery of common human genetic variants governing transcription, autonomic activity, and blood pressure in vivo.

Rao F et al.

Circulation, 2007

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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."