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Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

2 May 2016

Abstract excerpt

Myelodysplasia (MDS) and acute myeloid leukemia (AML) are mostly sporadic hematopoietic stem cell clonal disorders. However, there are rare occurrences of familial MDS/AML where there are two or more affected cases in the same family. To date, germline heterozygous mutations have been identified in 10 genes ( RUNX1 , CEBPA , TERC , TERT , GATA2 , SRP72 , ANKRD26 , ACD , ETV6 and DDX41 ) 1 , 2 , 3 , 4 , 5 , 6 , 7...

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Identifiers

PMID: 27133828
DOI: 10.1038/leu.2016.124

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