Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family

Fuente: Wiley Open Access

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Bibliographic Details
Main Authors:	Leah M. Huber, Aslı Subaşıoğlu, Dorota Garczarczyk‐Asim, Taras Valovka, Thomas Müller, Rüdiger Adam, Andreas R. Janecke
Format:	Artículo Open Access
Published:	Wiley 2025
Subjects:	Clinical Genetics
Online Access:	Acceder al recurso
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