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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS19

Variant:p.A58Splc

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RPS19

NM_001022.4:p.A58Splc

hg38:chr19:41861213 G>A

Associated Papers

Animal models of Diamond-Blackfan anemia: updates and challenges.

Liu YL et al.

Haematologica, 2023

36384250 (PubMed )

Supplement: 2022_282042_LIU_SUPPL.pdf

Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature.

Jahan D et al.

Journal of Pharmacy & Bioallied Sciences, 0

32742115 (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."