Validation and clinical application of transactivation assays for RUNX1 variant classification

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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Detalles Bibliográficos
Autores principales: Decker, Melanie, Agarwal, Anupriya, Benneche, Andreas, Churpek, Jane, Duployez, Nicolas, Duvall, Adam, Ernst, Martijn P. T., Förster, Alisa, Høberg-Vetti, Hildegunn, Hofmann, Inga, Nash, Michelle, Raaijmakers, Marc H. G. P., Tvedt, Tor H. A., Vlachos, Adrianna, Schlegelberger, Brigitte, Illig, Thomas, Ripperger, Tim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Stimulus Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198940/
https://www.ncbi.nlm.nih.gov/pubmed/35026845
http://dx.doi.org/10.1182/bloodadvances.2021006161

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