Validation and clinical application of transactivation assays for<i>RUNX1</i>variant classification

Decker, Melanie; Agarwal, Anupriya; Benneche, Andreas; E. Churpek, Jane; Duployez, Nicolas; DuVall, Adam; P. T. Ernst, Martijn; Förster, Alisa; Høberg‐Vetti, Hildegunn; Hofmann, Inga; M. Nash, Michelle; H.G.P. Raaijmakers, Marc; Henrik Anderson Tvedt, Tor; Vlachos, Adrianna; Schlegelberger, Brigitte; Illig, Thomas; Ripperger, Tim

doi:10.1182/bloodadvances.2021006161

Public

Validation and clinical application of transactivation assays forRUNX1variant classification

Published in Blood Advances • Jan 13, 2022

Authors:

Melanie Decker

Anupriya Agarwal

Andreas Benneche

Abstract

Familial platelet disorder with associated myeloid malignancies (RUNX1-familial platelet disorder [RUNX1-FPD]) is caused by heterozygous pathogenic germline variants of RUNX1. In the present study, we evaluate the applicability of transactivation assays to investigate RUNX1 variants in different reg...

Subject

Transactivation

RUNX1

Context (archaeology)

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