Pathogenic deep intronic PCSK1 variant causes proprotein convertase 1/3 deficiency in a family: short report - Huber, Leah M.; Subaşıoğlu, Aslı; Garczarczyk-Asim, Dorota; Valovka, Taras; Müller, Thomas; Adam, Rüdiger; Janecke, Andreas R. (Clinical genetics, 2025)
Erstmals veröffentlicht: 1. Februar 2025