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TÍTULO: A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing  Full Text
AUTORES: Ruestem Yilmaz; Ana Beleza Meireles; Susan Price; Renata Oliveira; Christian Kubisch; Jill Clayton Smith; Katalin Szakszon; Guntram Borck;
PUBLICAÇÃO: 2015, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, NÚMERO: 12
INDEXADO EM: Scopus WOS CrossRef