Varaico: Literature-Extracted Genetic Variants

Gene:TDP2
Variant:p.S138delins
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TDP2

NM_016614.3:p.S138delins

Associated Papers

A novel pathogenic variant in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by pituitary tumor and hyperhidrosis: a case report.

Zheng Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Errichiello E et al.

Journal of Human Genetics, 2020

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.

Gómez-Herreros F et al.

Nature Genetics, 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."