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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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Hiraide, Takuya, Watanabe, Seiji, Matsubayashi, Tomoko, Yanagi, Kumiko, Nakashima, Mitsuko, Ogata, Tsutomu, Saitsu, Hirotomo
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2020
Schlagworte:
Clinical Reports
Online Zugang: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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