Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.A213T
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THAP1

NM_018105.3:p.A213T

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

Recent advances in the genetics of dystonia.

Xiao J et al.

Current Neurology and Neuroscience Reports, 2014

Mutations in GNAL: a novel cause of craniocervical dystonia.

Kumar KR et al.

Jama Neurology, 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."