Associated Papers
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Errichiello E et al.
Blood Cells, Molecules & Diseases, 2017
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.
Chae H et al.
Experimental & Molecular Medicine, 2014
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
Chatr-Aryamontri A et al.
Human Mutation, 2004
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