Varaico: Literature-Extracted Genetic Variants

Gene:RPS28
Variant:p.M1T
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RPS28

NM_001031.5:p.M1T

Associated Papers

Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.

Lin S et al.

Hematology (amsterdam, Netherlands), 2025

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Gilad O et al.

Haematologica, 2022

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Watanabe N et al.

Journal of Leukocyte Biology, 2021

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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."