Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.A387D
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TH

NM_000360.4:p.A387D

Associated Papers

Striatal Subregion-selective Dysregulated Dopamine Receptor-mediated Intracellular Signaling in a Model of DOPA-responsive Dystonia.

Roman KM et al.

Neuroscience, 2023

Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders.

Briscione MA et al.

Molecular Genetics and Metabolism, 2021

Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice.

Rose SJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

A new knock-in mouse model of l-DOPA-responsive dystonia.

Rose SJ et al.

Brain : a Journal of Neurology, 2015

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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."