Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.T196fs
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RUNX1

NM_001754.5:p.T196fs

Associated Papers

Preclinical evaluation of eltrombopag in a PDX model of myelodysplastic syndromes.

Schmitt N et al.

Leukemia, 2022

Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

Li Y et al.

The Journal of Clinical Investigation, 2021

Bleeding risks for uncharacterized platelet function disorders.

Brunet J et al.

Research and Practice in Thrombosis and Haemostasis, 2020

32685888 (PubMed )
Supplement: RTH2-4-799-s001.pdf

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Brown AL et al.

Blood Advances, 2020

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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."