Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.*498W
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TH

NM_000360.4:p.*498W

Associated Papers

Comment on "Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?"

Furukawa Y et al.

Parkinsonism & Related Disorders, 2020

The quaternary structure of human tyrosine hydroxylase: effects of dystonia-associated missense variants on oligomeric state and enzyme activity.

Szigetvari PD et al.

Journal of Neurochemistry, 2019

Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

Schiller A et al.

Neurology, 2004

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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."