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The effects of structure on pre-mRNA processing and stability.
Soemedi R, Cygan KJ, Rhine CL, Glidden DT, Taggart AJ, Lin CL, Fredericks AM, Fairbrother WG. Soemedi R, et al. Among authors: rhine cl. Methods. 2017 Aug 1;125:36-44. doi: 10.1016/j.ymeth.2017.06.001. Epub 2017 Jun 6. Methods. 2017. PMID: 28595983 Free PMC article. Review.
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R, Cygan KJ, Rhine CL, Wang J, Bulacan C, Yang J, Bayrak-Toydemir P, McDonald J, Fairbrother WG. Soemedi R, et al. Among authors: rhine cl. Nat Genet. 2017 Jun;49(6):848-855. doi: 10.1038/ng.3837. Epub 2017 Apr 17. Nat Genet. 2017. PMID: 28416821 Free PMC article.
Hereditary cancer genes are highly susceptible to splicing mutations.
Rhine CL, Cygan KJ, Soemedi R, Maguire S, Murray MF, Monaghan SF, Fairbrother WG. Rhine CL, et al. PLoS Genet. 2018 Mar 5;14(3):e1007231. doi: 10.1371/journal.pgen.1007231. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29505604 Free PMC article.