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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUNX1

Variant:p.S322P

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RUNX1

NM_001754.5:p.S322P

hg38:chr21:34799304 A>G

Associated Papers

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Zerella JR et al.

Blood, 2024

38991192 (PubMed )

Supplement: BLOOD_BLD-2024-024607-mmc1.pdf

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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."