Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype
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DOI: 10.1002/humu.24323
Abstract: Diamond–Blackfan anemia is a rare genetic disease characterized by erythroblastopenia and a large spectrum of developmental anomalies. The vast majority of the cases genetically described are linked to heterozygous pathogenic variants in more than 20… read more here.
Keywords: diamond blackfan; blackfan anemia; rpl8 variants;