Varaico: Literature-Extracted Genetic Variants

Gene:RPL5
Variant:p.D59fs
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RPL5

NM_000969.5:p.D59fs

Associated Papers

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Tejero E et al.

Orphanet Journal of Rare Diseases, 2025

Deciphering lung adenocarcinoma evolution and the role of LINE-1 retrotransposition.

Zhang T et al.

Biorxiv : the Preprint Server for Biology, 2025

40161734 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_4

Investigation of the molecular causes underlying physical abnormalities in Diamond-Blackfan anemia patients with RPL5 haploinsufficiency.

Fukui Y et al.

Pathology International, 2021

Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.

Shin K et al.

Cancers, 2020

32120790 (PubMed )
Supplement: cancers-12-00549-s001.zip › cancers-663915-Supplementary_Tables_.xlsx › Table_S3
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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."