Varaico: Literature-Extracted Genetic Variants

Gene:RPS26
Variant:p.C77W
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RPS26

NM_001029.5:p.C77W

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

Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia.

Neuwirtova R et al.

Annals of Hematology, 2013

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.

Pospisilova D et al.

Blood Cells, Molecules & Diseases, 2012

Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.

Cmejla R et al.

Blood Cells, Molecules & Diseases, 2011

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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."