IL-12Rβ1 deficiency: Mutation update and description of the IL12RB1 variation database

Esther van de Vosse, Margje H. Haverkamp, Noe Ramirez-Alejo, Mónica Martinez-Gallo, Lizbeth Blancas-Galicia, Ayşe Metin, Ben Zion Garty, Çaǧman Sun-Tan, Arnon Broides, Roelof A. de Paus, Özlem Keskin, Deniz Çaǧdaş, Ilhan Tezcan, Encarna Lopez-Ruzafa, Juan I. Aróstegui, Jacov Levy, Francisco J. Espinosa-Rosales, Özden Sanal, Leopoldo Santos-Argumedo, Jean Laurent CasanovaStephanie Boisson-Dupuis, Jaap T. van Dissel, Jacinta Bustamante

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Biochemistry, Genetics and Molecular Biology