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Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing

29 Dec 2022

Abstract excerpt

The CpG island flanking the promoter region of SNRPN on chromosome 15q11.2 contains CpG sites that are completely methylated in the maternally derived allele and unmethylated in the paternally derived allele. Both unmethylated and methylated alleles are observed in normal individuals. Only the methylated allele is observed in patients with Prader-Willi syndrome, whereas only the unmethylated allele is observed in...

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PMID: 36587803
DOI: 10.1016/j.ejmg.2022.104690

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