Parent-of-origin testing of prenatal copy number variations: a retrospective study of 167 family cases

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 VUS CNVs. However, the infl...

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Bibliographic Details
Main Authors: Yuefang Liu, Yuan Peng, Zhe Liang, Qiong Pan
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-86487-w
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