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The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

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Description scientific article published on 24 December 2019
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author: Janine Altmüller  Noriko Miyake  Toru Sengoku  Bernd Wollnik 

Publication date December 24, 2019
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