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Large variations in total and allele-specific transcript expression in a disease mutation-independent manner

Abstract 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 fib...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Moritz Freyberg, Merete Bewig, Giovana Bavia Bampi, Candela Manfredi, Disha Joshi, Robert Rauscher, Jeong S. Hong, Jörg Große-Onnebrink, Sivagurunathan Sutharsan, Florian Stehling, Ingrid Bobis, Manfred Ballmann, Eric J. Sorscher, Zoya Ignatova
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Nature Portfolio 2026-02-01
Rangatū:Scientific Reports
Ngā marau:
Gene expression
Allele skewing
mRNA
Monogenic diseases
Cystic fibrosis
Urunga tuihono:https://doi.org/10.1038/s41598-026-40624-1
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