Associated Papers
The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.
Meric Z et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2026
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Targeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.
Wolff JH et al.
Nature Communications, 2025
40796771 (PubMed )
Supplement: 41467_2025_62738_MOESM1_ESM.pdf
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Activation of cryptic splice sites in three patients with chronic granulomatous disease.
de Boer M et al.
Molecular Genetics & Genomic Medicine, 2019
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