Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.L20H
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RPL11

NM_000975.5:p.L20H

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

The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.

Pospisilova D et al.

Blood Cells, Molecules & Diseases, 2012

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