Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.I125M
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RPL11

NM_000975.5:p.I125M

Associated Papers

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

Structure of human MDM2 complexed with RPL11 reveals the molecular basis of p53 activation.

Zheng J et al.

Genes & Development, 2015

26220995 (PubMed )
Supplement: supp_29.14.1524_Supplemental_material.doc
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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."