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The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
Qian Y, Johnson JA, Connor JA, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch MT, Filipovich AH, Zhang K. Qian Y, et al. Among authors: zhang g, zhang k. Pediatr Blood Cancer. 2014 Jun;61(6):1034-40. doi: 10.1002/pbc.24955. Epub 2014 Jan 28. Pediatr Blood Cancer. 2014. PMID: 24470399
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