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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.Journal of Clinical Immunology|July 29, 2021
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 PatientsHasan Hashem, Giorgia Bucciol, Seza Ozen, et al.Pageof 44