A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter

by Marco De Gobbi, Vip Viprakasit, Jim R. Hughes, Chris Fisher, Veronica J. Buckle, Helena Ayyub, Richard J. Gibbons, Douglas Vernimmen, Yuko Yoshinaga, Pieter De Jong, Jan Fang Cheng, Edward M. Rubin, William G. Wood, Don Bowden, Douglas R. Higgs
Published 2018