Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.Y14Y
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THAP1

NM_018105.3:p.Y14Y

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

Blepharospasm in a multiplex African-American pedigree.

Xiao J et al.

Journal of the Neurological Sciences, 2016

THAP1 mutations in a Greek primary blepharospasm series.

Xiromerisiou G et al.

Parkinsonism & Related Disorders, 2013

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

LeDoux MS et al.

Parkinsonism & Related Disorders, 2012

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

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.

Groen JL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2010

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."