Article

From PGT-M Discovery to Mechanism: Functional Validation of novel compound heterozygous RAG1 Mutations in Severe Combined Immunodeficiency

2026-03-20

Abstract excerpt

<title>Abstract</title> <bold>Purpose</bold> Severe combined immunodeficiency(SCID) is a life-threatening primary immunodeficiency disorder. This study aimed to identify novel recombination activating gene 1 ( <italic>RAG1</italic> ) variants in a Chinese pedigree and characterize their impact on protein structure and function, providing a genetic basis for preimplantation genetic testing for monogenic (P...

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Literature Corpus work: 3d14cbca-abbb-5742-9342-4c6f04629a57
DOI: 10.21203/rs.3.rs-9021280/v1

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