Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K24Splc
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THAP1

NM_018105.3:p.K24Splc

Associated Papers

Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India.

Holla VV et al.

Parkinsonism & Related Disorders, 2020

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.

Blanchard A et al.

Human Mutation, 2011

Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.

Cheng FB et al.

European Journal of Neurology, 2011

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Houlden H et al.

Neurology, 2010

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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."