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Conditionally pathogenic genetic variants of a hematopoietic disease–suppressing enhancer

Human genetic variants are classified on the basis of potential pathogenicity to guide clinical decisions. However, mechanistic uncertainties often preclude definitive categorization. Germline coding and enhancer variants within the hematopoietic regulator GATA2 create a bone marrow failure and leuk...

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Detalles Bibliográficos
Autores principales:	Soukup, Alexandra A., Matson, Daniel R., Liu, Peng, Johnson, Kirby D., Bresnick, Emery H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Association for the Advancement of Science 2021
Materias:	Biomedicine and Life Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8664263/ https://www.ncbi.nlm.nih.gov/pubmed/34890222 http://dx.doi.org/10.1126/sciadv.abk3521

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