Mutation spectrum of genetic variants in Hemophagocytic lymphohistiocytosis
Reference: Vanessa Gadoury-Levesque, Lei Dong, Rui Su, Jianjun Chen, Kejian Zhang, Kimberly A. Risma, Rebecca A. Marsh, Miao Sun; Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood Adv 2020; 4 (12): 2578–2594. Journal: Blood Advances Summary: 1892 samples were retrospectively analysed, 197 samples had pathogenic or likely pathogenic variants in …
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