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. 2021 Jul 8;106(11):3004–3007. doi: 10.3324/haematol.2021.278762

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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. — Registry of germline RUNX1 mutations. Germline RUNX1 variants currently included in the RUNX1db registry are visualised using the ProteinPaint web application (https://pecan.stjude.cloud/home).12 Variants (displayed as protein changes where possible) are colour-coded according to pathogenicity classification as determined by the MM-VCEP RUNX1-specific recommendations. The number of probands for each variant is indicated within the circle where the number is greater than one. All variants are annotated to RUNX1c; NM_001754.4; LRG_ 482.