Article

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

2026-07-13

Abstract excerpt

<title>Abstract</title> <p> Rare variants in <italic>SETD1A</italic> , encoding a histone H3K4 methyltransferase, are among the strongest genetic risk factors for schizophrenia. Exome sequencing (n = 3,736) revealed a population-enriched SETD1A missense variant (P596L) in the Lancaster Old Order Amish founder population, presenting a unique opportunity to elucidate variant-specific, multi-scale mechanisms. Psy...

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Literature Corpus work: 8d8165a4-be0e-5515-a73f-3ee97395f320
DOI: 10.21203/rs.3.rs-9900286/v1

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