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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS19

Variant:p.Y79*

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RPS19

NM_001022.4:p.Y79*

hg38:chr19:41869095 T>A

Associated Papers

Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature.

Karaosmanoglu B et al.

Frontiers in Physiology, 2021

34177624 (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."