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Fig. 3 | Clinical Epigenetics

Fig. 3

From: Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

Fig. 3

Hypomethylation of chr17:7486551-7486874: This segment is annotated to the promoter of MPDU1, which with an average hypomethylation of 29%, is one of the most differentially methylated regions between the patients (pink) and controls (blue). The inclusion of healthy carriers (green) generates a methylation pattern between the two groups. Track 1, chromosome ideogram; track 2, CpG probes; track 3, gene region; track 4, methylation level data; line, average methylation; shadow, 95% confidence interval; dots, methylation values from every single sample (0–1)

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