Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.A20delFs
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RPS19

NM_001022.4:p.A20delFs

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

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.

Avondo F et al.

Bmc Genomics, 2009

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 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."