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A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD)

Cybb GeneCryptic ExonDisease MechanismGenetic DisorderGeneticsPathogenesisPathologyMolecular GeneticsDisease Gene IdentificationSplice-supporting Intronic MutationGene ExpressionMedicineCell BiologySplicing Variant