Associated Papers
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Carlston CM et al.
American Journal of Medical Genetics. Part A, 2017
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P et al.
Haematologica, 2010
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