Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.R441P
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TH

NM_199292.3:p.R441P

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

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

Fossbakk A et al.

Human Mutation, 2014

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

Haugarvoll K et al.

Journal of Parkinson's Disease, 2011

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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."