Associated Papers
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.
Akram T et al.
International Journal of Hematology, 2020
Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.
Heijnen HF et al.
Plos Genetics, 2014
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.
Watkins-Chow DE et al.
Plos Genetics, 2013
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT et al.
American Journal of Human Genetics, 2008
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