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The mDDPCR results of Family 25. Detection of PCDH19 c.317T>A mutation in Proband 25’s multiple tissues (blood, buccal epithelium, saliva and urine). The wild-type and mutant population are circled in the top panels and bottom panels, respectively, with the % MUT indicated in the top right corner (MUT drops/total of WT+MUT droplets). MAF, mutant allelic fraction; mDDPCR, microdroplet digital PCR; WT, wild type.
