Varaico: Literature-Extracted Genetic Variants

Gene:RPS7
Variant:p.V134F
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RPS7

NM_001011.4:p.V134F

Associated Papers

Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.

Kubickova A et al.

Blood Cells, Molecules & Diseases, 2022

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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."