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

BACKGROUND: TOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been id...

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Bibliographic Details
Published in:Mol Genet Genomic Med
Main Authors: Hiraide, Takuya, Watanabe, Seiji, Matsubayashi, Tomoko, Yanagi, Kumiko, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2020
Subjects:
Clinical Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057084/
https://ncbi.nlm.nih.gov/pubmed/31953910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1145
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