Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.T148fs
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RUNX1

NM_001754.5:p.T148fs

Associated Papers

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

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

Brown AL et al.

Blood Advances, 2020

Controversies about germline RUNX1 missense variants.

Duployez N et al.

Leukemia & Lymphoma, 2020

Ezh2 and Runx1 Mutations Collaborate to Initiate Lympho-Myeloid Leukemia in Early Thymic Progenitors.

Booth CAG et al.

Cancer Cell, 2018

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Wong TN et al.

Nature, 2015

25487151 (PubMed )
Supplement: NIHMS635306-supplement-5.xlsx › taml.extension.all.tier1.2013.0

Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.

Churpek JE et al.

Leukemia & Lymphoma, 2010

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