Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.T142A
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THAP1

NM_018105.3:p.T142A

Associated Papers

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

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

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.

Sengel C et al.

Journal of Neurochemistry, 2011

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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."