Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.H246Y
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TH

NM_000360.4:p.H246Y

Associated Papers

Human tyrosine hydroxylase in Parkinson's disease and in related disorders.

Nagatsu T et al.

Journal of Neural Transmission (vienna, Austria : 1996), 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

24753243 (PubMed )
Supplement: humu0035-0880-sd1.pdf

Mutations in human monoamine-related neurotransmitter pathway genes.

Haavik J et al.

Human Mutation, 2008

Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.

Diepold K et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2005

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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."