Varaico: Literature-Extracted Genetic Variants

Gene:RPS26
Variant:p.D33N
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RPS26

NM_001029.5:p.D33N

Associated Papers

Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.

Li J et al.

International Journal of Laboratory Hematology, 2023

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

Schütz S et al.

Nature Communications, 2018

30201955 (PubMed )
Supplement: 41467_2018_6160_MOESM2_ESM.pdf

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 2013

23298314 (PubMed )
Supplement: pr301007j_si_006.pdf

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.

Boria I et al.

Human Mutation, 2010

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Doherty L et al.

American Journal of Human Genetics, 2010

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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."