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Flow diagram (according to Consolidated Standards of Reporting Trails [CONSORT] principles) illustrating the detection of 16p11.2 BP2–3 deletion carriers in UKBB and the exclusion and inclusion criteria used to define the set of control individuals included in both the phenome-wide association scan (PheWAS) and matched cohort analysis. N represents the sample size of the whole UKBB, and n represents the subsets of individuals considered at various steps in the analysis. BMI, body mass index; deg. rel., degree relatives.

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