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. 2018 Oct 4;56(2):81–88. doi: 10.1136/jmedgenet-2017-105235

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

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Sanger sequencing chromatograms of three mosaic probands families. (A) Sanger sequencing shows that the proband is mosaic for the PCDH19 variant (c.317T>A) in blood, buccal epithelium, saliva and urine. The variant appears to be hemizygous in his hair follicles. The variant is absent in his parents’ blood. (B) Sanger sequencing shows that the proband is mosaic for the PCDH19 variant (c.158dupT) in blood. The variant is absent in his parents’ blood. (C) Sanger sequencing shows that the proband is mosaic for the PCDH19 variant (c.2341delA) in blood. The variant is absent in her parents’ blood.