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cge1880-sup-0001-FigureS1.pptapplication/acrobat365KFig. SI. Chromatograms showing the WDR35 missense mutation c.A2912G (p.Tyr971Cys) in the homozygous state in patient 1 and in the heterozygous state in the parents (a); the heterozygous missense mutation c.T504A (p.Ser168Arg) in patient 2 and her mother (b), and the heterozygous nonsense mutation c.T1922G (p.Leu641X) in patient 2 and her father (c).

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