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
29766597 (PubMed )
Supplement: HUMU-39-1102-s001.pdf
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.
Kuramitsu M et al.
British Journal of Haematology, 2008
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
Gazda HT et al.
British Journal of Haematology, 2004
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