Varaico: Literature-Extracted Genetic Variants

Gene:RPL5
Variant:p.Y49insFs
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RPL5

NM_000969.5:p.Y49insFs

Associated Papers

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

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.

Cmejla R et al.

Human Mutation, 2009

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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."