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
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Gianferante DM et al.
Ejhaem, 2024
39691264 (PubMed )
Supplement: JHA2-5-1117-s001.pdf
A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.
Yazaki M et al.
Journal of Pediatric Hematology/oncology, 2012
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
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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