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Five out of the 29 CZS patients harbored known pathogenic variants likely to contribute to mild to severe manifestations observed. Approximately, 30% of affected individuals carried at least one pathogenic or likely pathogenic SNV in genes candidates to play a role in CZS. Our common variant association analysis detected a suggestive protective effect of the rs2076469 in DISP3 gene (p-value 1.39 x 10-5). The IL12RB2 gene (p-value 2.18x10-11) also showed an unusual distribution of nonsynonymous rare SNVs in control samples. Finally, genes
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