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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THAP1

Variant:p.Y50_S51insFs

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THAP1

NM_018105.3:p.Y50_S51insFs

hg38:chr8:42839303 A>AT

Associated Papers

DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.

Cheng F et al.

Brain : a Journal of Neurology, 2022

35015830 (PubMed )

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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."