Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.T79delFs
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THAP1

NM_018105.3:p.T79delFs

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

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

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

Cheng FB et al.

European Journal of Neurology, 2011

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Houlden H 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."