Validation and clinical application of transactivation assays for RUNX1 variant classification.

M, Decker; A, Agarwal; A, Benneche; J, Churpek; N, Duployez; A, Duvall; MPT, Ernst; A, Förster; H, Høberg-Vetti; I, Hofmann; M, Nash; MHGP, Raaijmakers; THA, Tvedt; A, Vlachos; B, Schlegelberger; T, Illig; T, Ripperger

doi:10.1182/bloodadvances.2021006161

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Validation and clinical application of transactivation assays for RUNX1 variant classification.

Shared by NobleBlocks on Jun 1, 2022 • 12:00 AM UTC

Authors:

Decker M

Agarwal A

Benneche A

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...

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