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Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China

25 Apr 2025

Abstract excerpt

Recessive monogenic disorders represent a significant cause of congenital malformations and disabilities in pediatric populations. The present study aims to provide the first comprehensive assessment of clinical experience with expanded carrier screening (ECS) panels in a large cohort from the Jiangxi province of Southern Central China. An ECS panel encompassing 147 genes associated with 155 genetic disorders was...

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PMID: 40281011
DOI: 10.1038/s41598-025-99253-9

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