Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.Q155P
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THAP1

NM_018105.3:p.Q155P

Associated Papers

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia.

Ahmadipour M et al.

Annals of Clinical and Translational Neurology, 2025

40539305 (PubMed )
Supplement: ACN3-12-1660-s001.pdf

Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes.

Kaymak A et al.

Annals of Neurology, 2025

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.

Danielsson A et al.

Journal of Clinical Medicine, 2019

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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."