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M. A. Coghlan

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Open access Oct 2026

Biallelic BECN1 variants cause neurodevelopmental disorders via AMPA receptor dysregulation

Genetic regulation of neurodevelopmental disorders that impair brain development and social interaction is complex and poorly understood. Although emerging evidence suggests a link between neurodevelopmental disorders and autophagy deficits, congenital autophagy gene disorders are rare in humans, and underlying molecul...

K. Kuramoto, F. Ullah, P. Liang et al. · 0 citations

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