Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.D498G
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TH

NM_199292.3:p.D498G

Associated Papers

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

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

Low frequency of GCH1 and TH mutations in Parkinson's disease.

Rengmark A et al.

Parkinsonism & Related Disorders, 2016

Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

Fossbakk A et al.

Human Mutation, 2014

Computational study of human tyrosine hydroxylase mutants to uphold [4-(Propan-2-yl) Phenyl]Carbamic acid as a potential inhibitor.

Nawaz MS et al.

Cns & Neurological Disorders Drug Targets, 2014

A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.

Haugarvoll K et al.

Journal of Parkinson's Disease, 2011

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

Willemsen MA et al.

Brain : a Journal of Neurology, 2010

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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."