Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.Q11*
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RPS19

NM_001022.4:p.Q11*

Associated Papers

Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature.

Karaosmanoglu B et al.

Frontiers in Physiology, 2021

Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.

Smetanina NS et al.

Pediatric Blood & Cancer, 2015

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."