Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.R32*
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RPL11

NM_000975.5:p.R32*

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
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