Article

Opening SCID Newborn Screening for novel exon genetic variants through whole-exome sequencing in China

2023-08-29

Abstract excerpt

<title>Abstract</title> <p>Introduction: Severe combined immunodeficiency (SCID) is the most fatal form of inherited primary immunodeficiency disease. Known molecular defect mutations occur in most children with SCID. Design and Methods: We report ADA-genetically confirmed cases of SCID using whole-exome sequencing (WES), explore exome mutational landscape and significance for 17 SCID samples, and verify the mu...

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Literature Corpus work: f7abeac3-c269-5b74-9a99-1f17c9a54e3b
DOI: 10.21203/rs.3.rs-3162227/v1

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