Article
Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.
Scientific reports - 27 Feb 2026
Freyberg Moritz, Bewig Merete, Bampi Giovana Bavia, Manfredi Candela, Joshi Disha, Rauscher Robert, Hong Jeong S, Große-Onnebrink Jörg, Sutharsan Sivagurunathan, Stehling Florian, Bobis Ingrid, Ballmann Manfred, Sorscher Eric J, Ignatova Zoya
Abstract excerpt
Individuals with monogenic diseases, even those with identical disease-causing mutations, exhibit considerable clinical heterogeneity in severity and outcomes. In this study, we quantified total and allele-specific transcript levels in nasal brushings from patients diagnosed with cystic fibrosis (CF) who are homozygous or compound heterozygous for variants in the cystic fibrosis transmembrane conductance...
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