Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.I195insFs
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RUNX1

NM_001754.5:p.I195insFs

Associated Papers

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Homan CC et al.

Haematologica, 2021

34233450 (PubMed )
Supplement: 2021_278762_HOMAN_TABLE1_SUPPL.xlsx › Germline_RUNX1_registry

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

Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation.

Badin MS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

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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."