2024
DOI: 10.1101/2024.08.26.609494
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Impact of intragenicNRXN1deletions on early cortical development

Lucia Dutan,
Nicholas J. F. Gatford,
Thaise Carneiro
et al.

Abstract: BackgroundDeletions inNRXN1are strongly associated with neurodevelopmental and psychiatric conditions. While exonic deletions are well-studied, intragenic deletions, particularly in intron 5, are less understood and generally consider benign. Recent studies show exonic deletions impact isoform diversity during neurodevelopment, affecting neurogenesis and neuronal function. However, whether intragenic deletions impact isoform expression and neurodevelopment remains underexplored.MethodsWe used hiPSCs from typic… Show more

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