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    Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

    Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5) por Julia Pagel, Karin Beutel, Kai Lehmberg, Florian Koch, Andrea Maul‐Pavicic, Anna‐Katharina Rohlfs, Abdullah Al‐Jefri, Rita Beier, Lilian Bomme Ousager, Karoline Ehlert, U. Gross‐Wieltsch, Norbert Jorch, Bernhard Kremens, Arnulf Pekrun, Monika Sparber‐Sauer, Ester Mejstříková, Angela Wawer, Stephan Ehl, Udo zur Stadt, Gritta Janka

    Publicado em 2012
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