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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPI1

Variant:p.R220H

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SPI1

NM_003120.3:p.R220H

hg38:chr11:47355381 C>T

Associated Papers

Heterozygous PU.1 mutations are associated with acute myeloid leukemia.

Mueller BU et al.

Blood, 2002

12130514 (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."