Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.D118G
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RPS19

NM_001022.4:p.D118G

Associated Papers

Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

Gianferante DM et al.

Ejhaem, 2024

39691264 (PubMed )
Supplement: JHA2-5-1117-s001.pdf

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.

Aspesi A et al.

Human Mutation, 2018

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

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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."