Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.V132_V133Splc
Back to variants list

RPL11

NM_000975.5:p.V132_V133Splc

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

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.

Wan Y et al.

International Journal of Hematology, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."