A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder
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DOI: 10.1002/mgg3.1145
Abstract: 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… read more here.
Keywords: top2b variant; disorder; associated global; novo top2b ... See more keywords