Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K24Splc
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THAP1

NM_018105.3:p.K24Splc

Associated Papers

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.

Holla VV et al.

Journal of Movement Disorders, 2022

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

Holla VV et al.

Parkinsonism & Related Disorders, 2020

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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."