Varaico: Literature-Extracted Genetic Variants

Gene:TSR2
Variant:p.E64G
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TSR2

NM_058163.3:p.E64G

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

Molecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2.

Schütz S et al.

Nature Communications, 2018

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.

Khajuria RK et al.

Cell, 2018

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2014

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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."