Varaico: Literature-Extracted Genetic Variants

Gene:ZSCAN9
Variant:p.N305S
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ZSCAN9

NM_006299.5:p.N305S

Associated Papers

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Zagnoli-Vieira G et al.

Neurology. Genetics, 2018

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."