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What are the underlying molecular mechanisms that may allow partial functional rescue in some 2184insA carriers?
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Are certain modifier genes, particularly TGF-β1 and MBL2, reproducibly correlated with milder or more severe phenotypes?
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Can antisense oligonucleotide (ASO) therapeutics be designed to restore normal CFTR mRNA splicing in the presence of this frameshift?
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Is translational readthrough therapy viable given the mutation’s position and severity?
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How have historical inconsistencies in diagnostic inclusion affected current patient registries and clinical interpretation?
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What phenotypic features may be under-documented due to misclassification or incomplete diagnostics in early cohorts?