Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.D113_P126delFs
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THAP1

NM_018105.3:p.D113_P126delFs

Associated Papers

Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

Paisán-Ruiz C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

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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."