Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.Q187K
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THAP1

NM_018105.3:p.Q187K

Associated Papers

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

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

Review: genetics and neuropathology of primary pure dystonia.

Paudel R et al.

Neuropathology and Applied Neurobiology, 2012

THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.

Xiromerisiou G et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

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

Kaffe M et al.

Parkinsonism & Related Disorders, 2012

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.

Blanchard A et al.

Human Mutation, 2011

Novel THAP1 gene mutations in patients with primary dystonia from southwest China.

Song W et al.

Journal of the Neurological Sciences, 2011

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

Cheng FB et al.

European Journal of Neurology, 2011

Novel THAP1 sequence variants in primary dystonia.

Xiao J et al.

Neurology, 2010

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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."