Author

B. Mitchell

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Open access Jul 2026

Clinical, cellular, and genomic consequences of a population-enriched SETD1A missense variant

Findings link a population-enriched missense variant to disrupted chromatin regulation, genome stability, and neurodevelopmental timing, bridging human genetic risk with cellular pathophysiology.

R. Lease, Rediet T. Oshone, Yumna Ahmed et al. · Research Square · 0 citations