Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.S130delFs
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THAP1

NM_018105.3:p.S130delFs

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

Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia.

Mure H et al.

Stereotactic and Functional Neurosurgery, 2014

Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease.

Xiromerisiou G et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."