Associated Papers
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
Segura-Tudela A et al.
Journal of Clinical Immunology, 2024
Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.
Miguel Berenguel L et al.
Frontiers in Immunology, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.
Nakagawa N et al.
The Journal of Allergy and Clinical Immunology, 2011
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