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Clinical application value of expanded carrier screening in the population of childbearing age

8 Apr 2023

Abstract excerpt

OBJECTIVE: The objective of this study was to explore the clinical utility of the implementation of expanded carrier screening (ECS) in Chinese population of childbearing age. MATERIALS AND METHODS: Based on capillary electrophoresis, a first-generation sequencing technology, a prospective screening study of carriers of 15 single-gene diseases was carried out in 327 subjects in Anhui Province, including 84...

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PMID: 37031186
DOI: 10.1186/s40001-023-01112-8

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