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A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing
Yilmaz, Rüstem, Beleza-Meireles, Ana, Price, Susan, Oliveira, Renata, Kubisch, Christian, Clayton-Smith, Jill, Szakszon, Katalin, Borck, GuntramLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37343
Date:
September, 2015
File:
PDF, 1.35 MB
english, 2015