Varaico: Literature-Extracted Genetic Variants

Gene:RPS28
Variant:p.M1V
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RPS28

NM_001031.5:p.M1V

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

Animal models of Diamond-Blackfan anemia: updates and challenges.

Liu YL et al.

Haematologica, 2023

36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.pdf

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2014

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