Associated Papers
RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair.
DeCleene NF et al.
Biorxiv : the Preprint Server for Biology, 2024
39416207 (PubMed )
Supplement: media-1.pdf
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
29766597 (PubMed )
Supplement: HUMU-39-1102-s001.pdf
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