(Q50431126)
Statements
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5). (English)
1 reference
Stephan Ehl
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Gritta Janka
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Julia Pagel
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Karin Beutel
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Kai Lehmberg
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Florian Koch
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Andrea Maul-Pavicic
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Anna-Katharina Rohlfs
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Abdullah Al-Jefri
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Rita Beier
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Lilian Bomme Ousager
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Karoline Ehlert
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Ute Gross-Wieltsch
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Norbert Jorch
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Bernhard Kremens
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Arnulf Pekrun
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Monika Sparber-Sauer
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Ester Mejstrikova
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Angela Wawer
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Udo zur Stadt
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26 March 2012
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119
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25
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6016-6024
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