Varaico: Literature-Extracted Genetic Variants

Gene:RPS10
Variant:p.R95_G102Fs
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RPS10

NM_001014.5:p.R95_G102Fs

Associated Papers

A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.

Kamble P et al.

Molecular Genetics and Genomics : Mgg, 2025

A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.

Yazaki M et al.

Journal of Pediatric Hematology/oncology, 2012

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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."