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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THAP1

Variant:p.A166_Q167insA

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THAP1

NM_018105.3:p.A166_Q167insA

hg38:chr8:42838108 C>CNNN

Associated Papers

Novel GNAL mutations in two German patients with sporadic dystonia.

Ziegan J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

25382112 (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."