Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.Q111*
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THAP1

NM_018105.3:p.Q111*

Associated Papers

Case report: Lingual dystonia symptoms treated with botulinum toxin in patients with THAP1 mutation.

Wagle Shukla A et al.

Dystonia (lausanne, Switzerland), 2024

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

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