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A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal

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Germline mutations in the transcriptional regulator ETV6 are a root cause of familial inherited thrombocytopenia and predispose carriers to myelodysplastic syndromes and acute leukemias. Here, we report that the ETV6 P214L mutation creates an XPO1-dependent nu... ...