Varaico: Literature-Extracted Genetic Variants

Gene:RPS29
Variant:p.I50T
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RPS29

NM_001032.5:p.I50T

Associated Papers

Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

Gianferante DM et al.

Ejhaem, 2024

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

Animal models of Diamond-Blackfan anemia: updates and challenges.

Liu YL et al.

Haematologica, 2023

36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.pdf

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

Mirabello L et al.

Blood, 2014

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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."