Associated Papers
A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.
Kamble P et al.
Molecular Genetics and Genomics : Mgg, 2025
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D et al.
Blood Cells, Molecules & Diseases, 2012
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L et al.
American Journal of Human Genetics, 2010
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