Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.

Blood(2018)

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摘要
TO THE EDITOR: Familial bone marrow failure (BMF) syndromes present typically in children and younger adults.[1][1][⇓][2]-[3][3] A number of germline (GL) mutations in genes such as DDX41 ,[4][4] RUNX1 ,[5][5] ETV6 ,[6][6] GATA2 ,[7][7] and ANKRD26 [8][8] have been implicated in the pathogenesis
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