一例由自适应纳米孔测序发现的 UBE3A 基因内复制引起的 Angelman 综合征。
Mesh : Humans Angelman Syndrome / genetics diagnosis Ubiquitin-Protein Ligases / genetics Nanopore Sequencing / methods DNA Methylation / genetics Female Gene Duplication / genetics Male Exons / genetics Pedigree Genomic Imprinting / genetics
来 源:
DOI:10.1186/s13148-024-01711-0
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