O58: High-resolution haplotyping of PAH gene enables early gestation noninvasive prenatal diagnosis of phenylketonuria and evolution analysis of recurrent pathogenic variations

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Bibliographic Details
Main Authors: Jingqi Zhu, Xiangdong Kong, Xinyu Fu, Huanyun Li
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425006661
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