Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.E37fs
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THAP1

NM_018105.3:p.E37fs

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

Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.

da Silva-Junior FP et al.

Journal of the Neurological Sciences, 2014

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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."