Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.Y119*
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RPL11

NM_000975.5:p.Y119*

Associated Papers

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

Liu YL et al.

Haematologica, 2023

36384250 (PubMed )
Supplement: 2022_282042_LIU_SUPPL.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

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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."