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


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