Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.E143*
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RUNX1

NM_001754.5:p.E143*

Associated Papers

Beyond Pathogenic RUNX1 Germline Variants: The Spectrum of Somatic Alterations in RUNX1-Familial Platelet Disorder with Predisposition to Hematologic Malignancies.

Förster A et al.

Cancers, 2022

35884491 (PubMed )
Supplement: cancers-14-03431-s001.zip › cancers-1797070-Supplementary_Table_S1.xlsx › Tabelle1

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

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

Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.

Merati G et al.

Frontiers in Oncology, 2021

High frequency of germline RUNX1 mutations in patients with RUNX1-mutated AML.

Simon L et al.

Blood, 2020

Chemogenomic Landscape of RUNX1-mutated AML Reveals Importance of RUNX1 Allele Dosage in Genetics and Glucocorticoid Sensitivity.

Simon L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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."