Varaico: Literature-Extracted Genetic Variants

Gene:RPL11
Variant:p.V132_V133Splc
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RPL11

NM_000975.5:p.V132_V133Splc

Associated Papers

[A child with persistent anaemia].

Gunnes MW et al.

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, 2024

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

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Gazda HT et al.

American Journal of Human Genetics, 2008

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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."