Associated Papers
Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder.
Panici B et al.
Genomics, 2021
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
A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult.
Narla A et al.
Blood Cells, Molecules & Diseases, 2016
Select a paper to view details