Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.Y54N
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RPS19

NM_001022.4:p.Y54N

Associated Papers

Rps19 R67∆ mutation creates a model of Diamond-Blackfan anemia and reveals downstream mediators of p53 pathway.

Kokavec J et al.

Hemasphere, 2026

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.

McGowan KA et al.

Nature Genetics, 2008

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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."