Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.Y54insFs
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RPS19

NM_001022.4:p.Y54insFs

Associated Papers

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

Liu YL et al.

Haematologica, 2023

36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.pdf

Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation.

Flygare J et al.

Experimental Hematology, 2008

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

Boria I et al.

Human Mutation, 2008

Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.

Hamaguchi I et al.

Blood, 2002

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia.

Matsson H et al.

Human Genetics, 1999

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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."