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