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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL5

Variant:p.Y49insFs

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RPL5

NM_000969.5:p.Y49insFs

hg38:chr1:92833617 A>AAGCC

Associated Papers

Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

Farrar JE et al.

Seminars in Hematology, 2011

21435509 (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."