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Germline RUNX1 variants in paediatric patients in a French specialised centre

Familial platelet disorder with associated myeloid malignancy (FPD‐MM; OMIM 601399) is related to germline RUNX1 mutation. The pathogenicity of RUNX1 variants was initially linked to FPD‐MM phenotype, but the discovery of new variants through the expansion of genetic explorations in leukaemia is que...

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Detalles Bibliográficos
Autores principales: Liu, Cécile, Ballerini, Paola, Nguyen, Guillaume, Mincheva, Zoia, Copin, Bruno, Bouslama, Boutheina, Leverger, Guy, Petit, Arnaud, Favier, Rémi, Lapillonne, Hélène, Boutroux, Hélène
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9928638/
https://www.ncbi.nlm.nih.gov/pubmed/36819173
http://dx.doi.org/10.1002/jha2.594

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