Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.E13insFs
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RPS19

NM_001022.4:p.E13insFs

Associated Papers

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

Gazda HT et al.

British Journal of Haematology, 2004

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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."