Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly - Bryen, Samantha J.; Joshi, Himanshu; Evesson, Frances J.; Girard, Cyrille; Ghaoui, Roula; Waddell, Leigh B.; Testa, Alison C.; Cummings, Beryl; Arbuckle, Susan; Graf, Nicole; Webster, Richard; MacArthur, Daniel G.; et al. (American journal of human genetics, 2019)
Keywords: 5′ splice site; abnormal splicing; Adolescent; Adult; Biophysical Phenomena; branchpoint; Child; Female; Humans; Infant; intronic deletion; Introns; Male; Middle Aged; non-coding variant; pathogenic splice variant; Pedigree; pre-mRNA splicing; RNA Splicing; spliceosome assembly; Spliceosomes; branchpoint; 5′ splice site; abnormal splicing; non-coding variant; spliceosome assembly; pathogenic splice variant; intronic deletion; pre-mRNA splicing