Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.L27L
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THAP1

NM_018105.3:p.L27L

Associated Papers

Mutational screening of THAP1 in a German population with primary dystonia.

Kaffe M et al.

Parkinsonism & Related Disorders, 2012

Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.

Cheng FB et al.

European Journal of Neurology, 2011

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."