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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS15A

Variant:p.L69L

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RPS15A

NM_001019.5:p.L69L

hg38:chr16:18788069 T>G

Associated Papers

Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.

Ikeda F et al.

Haematologica, 2017

27909223 (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."