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. 2020 Feb 13;106(1):64–73. doi: 10.3324/haematol.2019.237693

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Copyright© 2021 Ferrata Storti Foundation

This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

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Figure 1. — Genes involved in inherited and acquired bone marrow failure syndromes. Genes causative of an inherited bone marrow failure syndrome (IBMFS), and genes associated with a risk of transformation to hematological malignancy or response to immunosuppression in patients with acquired aplastic anemia (aAA) and hypoplastic myelodysplastic syndrome (hMDS) were assessed in this study. Four genes, CSF3R, GATA2, MPL and RUNX1, were assessed in both germline and acquired settings. Genes targeted by whole exome sequencing (WES) only (i.e., not included on targeted panel) are denoted with an asterisk. Genes KMT2D and PSTPIP1 are not represented in this figure; variants detected in these two genes were considered ‘off-target’ findings.