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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS19

Variant:p.P2fs

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RPS19

NM_001022.4:p.P2fs

hg38:chr19:41860778 CCT>N

Associated Papers

Diamond-Blackfan anemia syndrome in an adult with RPS19 and DDX41 variants successfully treated with allogeneic stem cell transplantation: a case report.

Gosho K et al.

Leukemia & Lymphoma, 2025

40174221 (PubMed )

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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."