Germline ERCC excision repair 6 like 2 ( ERCC6L2 ) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

Abstract excerpt

Despite the inclusion of inherited myeloid malignancies as a separate entity in the World Health Organization Classification, many established predisposing loci continue to lack functional characterization. While germline mutations in the DNA repair factor ERCC excision repair 6 like 2 (ERCC6L2) give rise to bone marrow failure and acute myeloid leukaemia, their consequences on normal haematopoiesis remain...

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