Associated Papers
Computational Studies of the Structural Basis of Human RPS19 Mutations Associated With Diamond-Blackfan Anemia.
An K et al.
Frontiers in Genetics, 2021
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
Boria I et al.
Human Mutation, 2008
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Angelini M et al.
Human Molecular Genetics, 2007
Select a paper to view details