P330: A novel WARS2 variant impacting dimerization in trans with a recurrent pathogenic variant in a child with features of NEMMLAS

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Bibliographic Details
Published inGenetics in Medicine Open Vol. 2; p. 101224
Main Authors Burns, Christine Bergeon, VanSickle, Elizabeth, Mark, Paul, Prokop, Jeremy
Format Journal Article
LanguageEnglish
Published Elsevier Inc 2024
Elsevier
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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2024.101224