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Two novel germline mutations, RH and MI, were identified. S3d , S3n — 3p. Inherited forms of MDS are increasingly recognized following the advent of genetic screening [ 5 , 6 ], with DDX41 the most commonly mutated gene. DDXrelated myeloid neoplasia. S6b — 6g. Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia. Subjects Cancer genomics Cell signalling Myelodysplastic syndrome.
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