Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity

Fuente: Wiley Open Access

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Bibliographic Details
Main Authors:	Simon Boussion, Madeleine Aumar, Antoine Hutt, Damien Fron, Pierre Fayoux, Jamal Ghoumid, Frédéric Gottrand, Thomas Smol
Format:	Artículo Open Access
Published:	Wiley 2024
Subjects:	Clinical Genetics
Online Access:	Acceder al recurso
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