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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL13

Variant:p.R5insFs

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RPL13

NM_000977.4:p.R5insFs

hg38:chr16:89560973 G>GA

Associated Papers

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF et al.

Human Mutation, 2008

18412286 (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."