Associated Papers
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Lebaron S et al.
Human Mutation, 2022
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Wang R et al.
British Journal of Haematology, 2015
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