Genetic variation and inflammation intersections: GATA2- and RUNX1-linked mechanisms of blood pathogenesis.

Abstract excerpt

Germline genetic variation can predispose hematopoietic stem and progenitor cells to bone marrow failure and hematologic malignancies. Why predisposition-causing (conditionally pathogenic, CP) genetic variation is insufficient for pathogenesis is incompletely understood. The current paradigm assumes that CP variation enables secondary genetic mutations and/or epigenetic alterations to instigate pathogenesis....

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