From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature
Article in BMC Pediatrics (February 2024)
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Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency
Article in Science Translational Medicine (February 2024)
Severe combined immunodeficiency diagnosis and genetic defects
Article in Immunological Reviews (January 2024)