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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2026
Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted TranscriptionChristina Canavati, Mari Oppebøen, Radha Verma, et al.The New England Journal of Medicine|February 21, 2014
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathyPaulina Navon Elkan, Sarah B Pierce, Reeval Segel, et al.Pageof 8