Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K24E
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THAP1

NM_018105.3:p.K24E

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

Identification and functional analysis of novel THAP1 mutations.

Lohmann K et al.

European Journal of Human Genetics : Ejhg, 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."