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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPOR

Variant:p.E417A

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EPOR

NM_000121.4:p.E417A

hg38:chr19:11378261 T>G

Associated Papers

Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

Sanada M et al.

Nature, 2009

19620960 (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."