Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.P126delFs
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THAP1

NM_018105.3:p.P126delFs

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

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement.

Danielsson A et al.

Journal of Clinical Medicine, 2019

Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation.

Stamelou M et al.

Journal of the Neurological Sciences, 2018

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

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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."