Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.F132S
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THAP1

NM_018105.3:p.F132S

Associated Papers

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.

Lange LM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

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

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

Kaffe M et al.

Parkinsonism & Related Disorders, 2012

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

Spasmodic dysphonia: a laryngeal control disorder specific to speech.

Ludlow CL

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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."