P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family

P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family

Bibliographic Details
Main Authors:	Kanika Parashar, Kristen Wigby, Annette Feigenbaum, Miguel Del Campo
Format:	Article
Language:	English
Published:	Elsevier 2024-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774424005107

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