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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A variant of RAG1 gene identified in severe combined immunodeficiency: a case report

Xinping Zhang1, Xiayan Kang1, Meiyu Yang1

  • 1Department of Pediatric Intensive Care Unit of Hunan Children's Hospital, Changsha, Hunan, People's Republic of China.

BMC Pediatrics
|February 2, 2023
PubMed
Abstract

Keywords:
RAG deficiencymissense variantsevere combined immunodeficiencywhole-exome sequencing

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