Varaico: Literature-Extracted Genetic Variants

Gene:TOP3B
Variant:p.P378Q
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TOP3B

NM_001282112.2:p.P378Q

Associated Papers

An autism spectrum disorder mutation in Topoisomerase 3β causes accumulation of covalent mRNA intermediates by disrupting metal binding within the zinc finger domain.

Warrick JE et al.

Nucleic Acids Research, 2025

An autism spectrum disorder mutation in Topoisomerase 3β causes accumulation of covalent mRNA intermediates by disrupting metal binding within the zinc finger domain.

Warrick JE et al.

Biorxiv : the Preprint Server for Biology, 2025

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin S et al.

Molecular Psychiatry, 2017

Unraveling the Role of Topoisomerase 3β (TOP3B) in mRNA Translation and Human Disease.

Warrick JE et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."