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

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Bibliographic Details
Published in:Genetics in Medicine Open 2024, Vol.2, p.101364, Article 101364
Main Authors: Parashar, Kanika, Wigby, Kristen, Feigenbaum, Annette, Del Campo, Miguel
Format: Article
Language:English
Online Access:Get full text
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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2024.101364