Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.G119Splc
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RPS19

NM_001022.4:p.G119Splc

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

Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia.

Al-Mulla A et al.

Journal of Pediatric Hematology/oncology, 2023

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

Boria I et al.

Human Mutation, 2008

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.

Campagnoli MF et al.

Haematologica, 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."