Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.R32_L33delFs
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RPL11

NM_000975.5:p.R32_L33delFs

Associated Papers

Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia.

Voit RA et al.

Cell Stem Cell, 2025

39532107 (PubMed )
Supplement: NIHMS2031095-supplement-1.pdf

Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

Gianferante DM et al.

Ejhaem, 2024

39691264 (PubMed )
Supplement: JHA2-5-1117-s001.pdf

Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

Carlston CM et al.

American Journal of Medical Genetics. Part A, 2017

Gene conversion in human genetic disease.

Chen JM et al.

Genes, 2010

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

Boria I et al.

Human Mutation, 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."