A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker

Yavor K. Bozhilov, Damien J. Downes, Jelena Telenius, A. Marieke Oudelaar, Emmanuel N. Olivier, Joanne C. Mountford, Jim R. Hughes, Richard J. Gibbons, Douglas R. Higgs

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