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Fig. 1 | Clinical Epigenetics

Fig. 1

From: Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

Fig. 1

Repeat copy-number analysis of four sporadic cases and their parents. a Familial pedigree of four sporadic cases having NOTCH2NLC GGC expansion. b Repeat-size evaluation of NOTCH2NLC GGC repeats using tandem-genotypes. The copy number changes in the NOTCH2NLC GGC repeat relative to the human reference genome (hg38) were examined in the patient-parents trio in four families. Pale blue: non-expanded allele; pale pink: expanded allele. Pt patient; Fa father; Mo mother

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Clinical Epigenetics

ISSN: 1868-7083

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