Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.E114K
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TH

NM_000360.4:p.E114K

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

30411798 (PubMed )
Supplement: JNC-148-291-s001.pdf
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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."