Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.Q128_R129delFs
Back to variants list

RPS19

NM_001022.4:p.Q128_R129delFs

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

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Gilad O et al.

Haematologica, 2022

Outcome of colorectal cancer in Diamond-Blackfan syndrome with a ribosomal protein S19 mutation.

Kimura K et al.

Clinical Journal of Gastroenterology, 2020

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."