Varaico: Literature-Extracted Genetic Variants

Gene:RPS26
Variant:p.C74S
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RPS26

NM_001029.5:p.C74S

Associated Papers

Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.

Li J et al.

International Journal of Laboratory Hematology, 2023

Chaperone-directed ribosome repair after oxidative damage.

Yang YM et al.

Molecular Cell, 2023

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.

Wan Y et al.

International Journal of Hematology, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."