Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Mutation in an exonic splicing enhancer site causing chronic granulomatous disease.
de Boer M et al.
Blood Cells, Molecules & Diseases, 2017
Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease.
Eguchi M et al.
Pediatric Hematology and Oncology, 0
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