Varaico: Literature-Extracted Genetic Variants

Gene:TOP2B
Variant:p.Y634C
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TOP2B

NM_001330700.2:p.Y634C

Associated Papers

Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review.

Zhu GQ et al.

Frontiers in Pediatrics, 2025

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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."