Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.L180S
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THAP1

NM_018105.3:p.L180S

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

Isolated dystonia: clinical and genetic updates.

Domingo A et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.

Cheng F et al.

Journal of Molecular Neuroscience : Mn, 2020

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

Richter A et al.

Journal of Molecular Neuroscience : Mn, 2017

Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.

Cheng FB et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2014

Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia.

Cheng FB 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

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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."