Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases
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DOI: 10.1038/s41598-025-86487-w
Abstract: Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis. Previous studies have clarified the influence of a parent-of-origin test on the prenatal… read more here.
Keywords: vus cnvs; pcnvs; parent origin; cnvs ... See more keywords