HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
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DOI: 10.1182/blood.2021011846
Abstract: The congenital bone marrow failure syndrome, Diamond-Blackfan anemia (DBA), is typically associated with variants in ribosomal protein (RP) genes impairing erythroid cell development. Here we report multiple individuals with biallelic HEATR3 variants exhibiting bone marrow… read more here.
Keywords: heatr3 variants; blackfan anemia; heatr3; nuclear import ... See more keywords