Varaico: Literature-Extracted Genetic Variants

Gene:TOP2B
Variant:p.H58Y
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TOP2B

NM_001068.3:p.H58Y

Associated Papers

Disease-associated H58Y mutation affects the nuclear dynamics of human DNA topoisomerase IIβ.

Morotomi-Yano K et al.

Scientific Reports, 2022

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.

Hiraide T et al.

Clinical Genetics, 2021

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.

Hiraide T et al.

Molecular Genetics & Genomic Medicine, 2020

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.

Lam CW et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."