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Comprehensive expanded carrier screening using next-generation sequencing in Southern Chinese couples

2024-07-02

Abstract excerpt

<title>Abstract</title> <p>Background Carrier screening has been an effective way to prevent severe birth defects in many countries. However, it has not been widely performed in China. In order to identify the local carrier mutation spectrum of autosomal/X-linked recessive diseases in the southeast coastal region in China, a pilot study of mutation carrier screening analysis of a 332-genes panel has been perform...

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Literature Corpus work
539618b1-68f3-53c6-8d30-7ca050ab78cd
DOI
10.21203/rs.3.rs-4543957/v1
Open publication

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Comprehensive expanded carrier screening using next-generation sequencing in Southern Chinese couplesDOI 10.21203/rs.3.rs-4543957/v1
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