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Nucleic Acids Research|May 16, 2018
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cellsGitte H Bruun, Jeanne M V Bang, Lise L Christensen, et al.
Nucleic Acid Therapeutics|July 14, 2022
Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase GeneAinhoa Martínez-Pizarro, Fátima Leal, Lise Lolle Holm, et al.
Metabolism: Clinical and Experimental|November 9, 2024
Body weight control via protein kinase CK2: diet-induced obesity counteracted by pharmacological targetingLaura M Buchwald, Ditte Neess, Daniel Hansen, et al.
Human Mutation|October 15, 2013
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Sabrina Brøner, Rugivan Sabaratnam, et al.
Nature|July 13, 2017
Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegansCaroline Heintz, Thomas K Doktor, Anne Lanjuin, et al.
Cancer Cell International|December 26, 2024
Protein kinase CK2 sustains de novo fatty acid synthesis by regulating the expression of SCD-1 in human renal cancer cellsBarbara Guerra, Kristina Jurcic, Rachelle van der Poel, et al.
European Journal of Human Genetics : EJHG|March 11, 2026
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYRMuhammad Farooq, Gitte Hoffmann Bruun, Menachem V K Sarusie, et al.
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