Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.Q12*
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RPS19

NM_001022.4:p.Q12*

Associated Papers

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.

Quarello P et al.

American Journal of Hematology, 2026

41247002 (PubMed )
Supplement: AJH-101-228-s001.docx

A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

Boria I et al.

Human Mutation, 2008

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.

Orfali KA et al.

British Journal of Haematology, 2004

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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."