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Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS. Nielsen KB, et al. Among authors: krainer ar. Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273963 Free PMC article.
BRCA2 T2722R is a deleterious allele that causes exon skipping.
Fackenthal JD, Cartegni L, Krainer AR, Olopade OI. Fackenthal JD, et al. Among authors: krainer ar. Am J Hum Genet. 2002 Sep;71(3):625-31. doi: 10.1086/342192. Epub 2002 Jul 19. Am J Hum Genet. 2002. PMID: 12145750 Free PMC article.
ESEfinder: A web resource to identify exonic splicing enhancers.
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. Cartegni L, et al. Among authors: krainer ar. Nucleic Acids Res. 2003 Jul 1;31(13):3568-71. doi: 10.1093/nar/gkg616. Nucleic Acids Res. 2003. PMID: 12824367 Free PMC article.
227 results