Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.T196R
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RUNX1

NM_001754.5:p.T196R

Associated Papers

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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

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

B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations.

Six KA et al.

Blood Advances, 2021

Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.

Li Y et al.

The Journal of Clinical Investigation, 2021

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

Brown AL et al.

Blood Advances, 2020

Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.

Rothenberg-Thurley M et al.

Leukemia, 2018

29472724 (PubMed )
Supplement: 41375_2018_34_MOESM2_ESM.xlsx › Supplemental_Table_3

Role of RUNX1 in hematological malignancies.

Sood R et al.

Blood, 2017

Gene of the issue: RUNX1 mutations and inherited bleeding.

Morgan NV et al.

Platelets, 2017

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

Latger-Cannard V et al.

Orphanet Journal of Rare Diseases, 2016

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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."