Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.M1delFs
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THAP1

NM_018105.3:p.M1delFs

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

Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation.

Krause P et al.

Journal of Neurology, 2015

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

LeDoux MS et al.

Parkinsonism & Related Disorders, 2012

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

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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."