Associated Papers
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Gianferante DM et al.
Ejhaem, 2024
39691264 (PubMed )
Supplement: JHA2-5-1117-s001.pdf
Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.
Heijnen HF et al.
Plos Genetics, 2014
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT et al.
American Journal of Human Genetics, 2008
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