Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.N75I
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THAP1

NM_018105.3:p.N75I

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

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

Cheng FB et al.

Journal of Neurology, 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

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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."