Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.P19P
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THAP1

NM_018105.3:p.P19P

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

Clinical and genetic features of cervical dystonia in a large multicenter cohort.

LeDoux MS et al.

Neurology. Genetics, 2016

Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.

Golanska E et al.

Plos One, 2015

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

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."