Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.E56G
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THAP1

NM_018105.3:p.E56G

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

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.

Gajos A et al.

The International Journal of Neuroscience, 2015

Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions.

Golanska E et al.

Plos One, 2015

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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."