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American Journal of Human Genetics|February 3, 2007
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 enhancerKarsten Bork Nielsen, Suzette Sørensen, Luca Cartegni, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 15, 2014
A heroin addiction severity-associated intronic single nucleotide polymorphism modulates alternative pre-mRNA splicing of the μ opioid receptor gene OPRM1 via hnRNPH interactionsJin Xu, Zhigang Lu, Mingming Xu, et al.American Journal of Medical Genetics. Part A|April 27, 2004
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNABrandy A Wicklow, Jennifer L Ivanovich, Margot M Plews, et al.Proceedings of the National Academy of Sciences of the United States of America|July 31, 2014
p53Ψ is a transcriptionally inactive p53 isoform able to reprogram cells toward a metastatic-like stateSerif Senturk, Zhan Yao, Matthew Camiolo, et al.Plos One|April 6, 2012
Therapeutic hemoglobin levels after gene transfer in β-thalassemia mice and in hematopoietic cells of β-thalassemia and sickle cells disease patientsLaura Breda, Carla Casu, Sara Gardenghi, et al.The Journal of Clinical Investigation|March 21, 2017
Alternatively spliced mu opioid receptor C termini impact the diverse actions of morphineJin Xu, Zhigang Lu, Ankita Narayan, et al.Pageof 3