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Yigit, Goekhan, Saida, Ken, DeMarzo, Danielle, Miyake, Noriko, Fujita, Atsushi, Yang Tan, Tiong, White, Susan M., Wadley, Alexandrea, Toliat, Mohammad R., Motameny, Susanne, Franitza, Marek, Stutterd, Chloe A., Chong, Pin F., Kira, Ryutaro ORCID: 0000-0002-6878-5081, Sengoku, Toru
ORCID: 0000-0001-9461-8714, Ogata, Kazuhiro, Guillen Sacoto, Maria J., Fresen, Christine, Beck, Bodo B., Nuernberg, Peter, Dieterich, Christoph, Wollnik, Bernd, Matsumoto, Naomichi and Altmueller, Janine
(2020).
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum. Mutat., 41 (3).
S. 591 - 600.
HOBOKEN:
WILEY.
ISSN 1098-1004