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- W4383313758 abstract "To the Editor: We thank Dr. Bassett and colleagues for their interest in our work. While they raise several pertinent points to nuance our findings, most comments are based on misunderstandings of the presented analyses highlighted below. The impact of 22q11.2 copy-number variants on human traits in the general populationZamariolli et al.The American Journal of Human GeneticsJanuary 26, 2023In BriefExploring the phenome-wide impact of 22q11.2 CNVs in the general population revealed variable effects of deletions and duplications of specific segments in the region. Mendelian randomization found the effect of the expression level of certain 22q11.2 genes to be concordant with the estimated CNV effect on the same trait. Full-Text PDF Open AccessApproaches to studying the impact of 22q11.2 copy number variantsBassett et al.The American Journal of Human GeneticsJuly 06, 2023In BriefTo the Editor: We read with interest the recent article “The impact of 22q11.2 copy-number variants on human traits in the general population” by Zamariolli et al.,1 given the importance of copy number variations (CNVs) within this complex region, and in research that could further our understanding of the effects of 22q11.2 CNVs. Full-Text PDF" @default.
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- W4383313758 date "2023-07-01" @default.
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- W4383313758 title "Response to Bassett et al." @default.
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- W4383313758 doi "https://doi.org/10.1016/j.ajhg.2023.05.017" @default.
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