P623: Prenatal diagnosis of a RNU4ATAC-related disorder detected by whole genome sequencing not seen by exome sequencing on the initial proband

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Bibliographic Details
Published in:Genetics in Medicine Open 2023, Vol.1 (1), p.100679, Article 100679
Main Authors: Pilchman, Lisa, Coleman, Beverly, Fisher, Allan, Combs, Natasha, Kaufmann, Kendall, Moldenhauer, Julie, Gebb, Juliana
Format: Article
Language:English
Online Access:Get full text
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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2023.100679