Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.V137D
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RUNX1

NM_001001890.3:p.V137D

Associated Papers

Interface-guided phenotyping of coding variants in the transcription factor RUNX1.

Ozturk K et al.

Cell Reports, 2024

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-mmc4.xlsx › Supp_Table_3__final

Interface-guided phenotyping of coding variants in the transcription factor RUNX1 with SEUSS.

Ozturk K et al.

Biorxiv : the Preprint Server for Biology, 2023

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

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

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

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

Simon L et al.

Blood, 2020

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."