Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.R169*
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THAP1

NM_018105.3:p.R169*

Associated Papers

Late-Onset Dystonia With THAP1 Mutation (DYT6) in South Korea: A Case Report and Literature Review.

Chang HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2023

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Millar Vernetti P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022

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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."