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Article

A Regional Burden of Sequence-Level Variation in the 22q11.2 Region Influences Schizophrenia Risk and Educational Attainment.

Biological psychiatry - 15 Apr 2022

Breetvelt Elemi J, Smit Karel C, van Setten Jessica, Merico Daniele, Wang Xiao, Vaartjes Ilonca, Bassett Anne S, Boks Marco P M, Szatmari Peter, Scherer Stephen W, Kahn René S, Vorstman Jacob A S

Abstract excerpt

BACKGROUND: Genomic loci where recurrent pathogenic copy number variants are associated with psychiatric phenotypes in the population may also be sensitive to the collective impact of multiple functional low-frequency single nucleotide variants (SNVs). METHODS: We examined the cumulative impact of low-frequency, functional SNVs within the 22q11.2 region on schizophrenia risk in a discovery cohort and an...

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PMID: 35063188
DOI: 10.1016/j.biopsych.2021.11.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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