Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.S194P
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THAP1

NM_018105.3:p.S194P

Associated Papers

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

de Gusmão CM et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2016

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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."