Novel variants in GALE caused syndromic macrothrombocytopenia disrupting thrombopoiesis and glycosylation

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Authors: Marin-Quilez A, Di Buduo C, Díaz-Ajenjo L, Soprano P, Vuelta E, Serramito-Gómez I, Santos-Mínguez S, Miguel-García C, Tocino-Antonio S, Zamora-Canovas A, Ruiz-Sala P, Peñarrubia M, Pardal E, Hernández-Rivas J, González-Porras J, Benito R, Rivera J, García-Tuñón I, Balduini A, Bastida J.

Journal title: Research and Practice in Thrombosis and Haemostasis

Journal publisher: Wiley online library

Published year: 2022