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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association for the Advancement of Science
2021
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Materias: | |
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 |