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TITLE: A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing  Full Text
AUTHORS: Ruestem Yilmaz; Ana Beleza Meireles; Susan Price; Renata Oliveira; Christian Kubisch; Jill Clayton Smith; Katalin Szakszon; Guntram Borck;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef