Varaico: Literature-Extracted Genetic Variants

Gene:NES
Variant:p.W13*
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NES

NM_006617.2:p.W13*

Associated Papers

Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.

Baumann H et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Reduced Expression of GABA A Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons.

Staege S et al.

Frontiers in Cell and Developmental Biology, 2021

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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."