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Whole‐exome sequencing (WES) enables identification of pathogenic variants, including copy number variants (CNVs). In this study, we performed WES in 101 Japanese patients with unexplained developmental delay (DD) or intellectual disability (ID) (63 males and 38 females), 98 of them with trio‐WES. Pathogenic variants were identified in 54 cases (53.5%), including four cases with pathogenic CNVs. In...
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