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- W2032745668 abstract "A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5–3.0 Mb) at 22q11.2—the reciprocal of the well-known, risk-inducing deletion of this locus—are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia." @default.
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- W2032745668 date "2013-11-12" @default.
- W2032745668 modified "2023-10-17" @default.
- W2032745668 title "Evidence that duplications of 22q11.2 protect against schizophrenia" @default.
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- W2032745668 doi "https://doi.org/10.1038/mp.2013.156" @default.
- W2032745668 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3873028" @default.
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