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Updated: Sep 25, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Novel IL2RG Gene Mutation in One of Dizygotic Twins Causing Profound Changes of Receptor Structure

Magdalena Rutkowska-Zapała1, Anna Szaflarska1, Anna Kluczewska1

  • 1Department of Clinical Immunology, Institute of Paediatrics, Jagiellonian University Medical College, Kraków, Poland.

Frontiers in Pediatrics
|May 2, 2022
PubMed

Keywords:
X-linked severe combined immunodeficiencydizygotic twinsinterleukin 2 receptor gammanovel genetic variantprotein structure

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