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Validation and clinical application of transactivation assays for RUNX1 variant classification

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Key Points Transactivation assays are appropriate for functional characterization of the majority of RUNX1 missense variants observed in RUNX1-FPD. Implementation of transactivation assays for RUNX1 variants with unknown function accelerates… Click to show full abstract

Key Points Transactivation assays are appropriate for functional characterization of the majority of RUNX1 missense variants observed in RUNX1-FPD. Implementation of transactivation assays for RUNX1 variants with unknown function accelerates their translation into clinical care.

Keywords: transactivation; clinical application; validation clinical; application transactivation; transactivation assays; assays runx1

Journal Title: Blood Advances
Year Published: 2022

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