Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets - Ochoa, Sebastian; Oler, Andrew J.; Chinn, Ivan K.; Lionakis, Michail S. (Journal of allergy and clinical immunology, 2025)
Keywords: Antisense oligonucleotides (ASOs); genome sequencing; Inborn errors of immunity (IEI); RNA sequencing (RNA-Seq); splice variants; Antisense oligonucleotides (ASOs); AD; splice variants; ISS; 5′ss; GS; IEI; ES; 3′ss; AT; Inborn errors of immunity (IEI); RNA-Seq; RNA sequencing (RNA-Seq); genome sequencing; SNV; ASO; APECED; snRNP; SR