Articles with "gene overdosage" as a keyword



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Molecular and behavioral consequences of Ube3a gene overdosage in mice

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Published in 2022 at "JCI Insight"

DOI: 10.1172/jci.insight.158953

Abstract: Chromosome 15q11.2–q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the UBE3A gene is presumed to be the primary driver… read more here.

Keywords: molecular behavioral; gene overdosage; ube3a gene; gene ... See more keywords