Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Genes（2022）
摘要
The present approach solved uncertainty in cases with VoUS, further demonstrating the clinical utility of DNAm profiling.
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关键词
DNA methylation,NSD1,Sotos syndrome,VoUS validation,differential diagnosis,genomic variant classification,overgrowth
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