Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.G170Splc
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RUNX1

NM_001754.5:p.G170Splc

Associated Papers

Enhanced Detection of Splice-Altering Variants in Hematologic Malignancies Using Targeted RNA-Sequencing Data.

Maqsood M et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.

Garrote M et al.

Cancers, 2023

37568719 (PubMed )
Supplement: cancers-15-03904-s001.zip › cancers-2478235-supplementary.pdf

RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Kaisrlikova M et al.

Leukemia, 2022

35505182 (PubMed )
Supplement: 41375_2022_1584_MOESM2_ESM.xlsx › Mutations_214_LR-MDS

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia.

Wang F et al.

Nature Communications, 2021

33972549 (PubMed )
Supplement: 41467_2021_22874_MOESM4_ESM.xlsx › Supplementary_Data_3

RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.

Adnan Awad S et al.

Leukemia, 2021

Subclonal patterns in follow-up of acute myeloid leukemia combining whole exome sequencing and ultrasensitive IBSAFE digital droplet analysis.

Pettersson L et al.

Leukemia & Lymphoma, 2020

Recurrent genetic HLA loss in AML relapsed after matched unrelated allogeneic hematopoietic cell transplantation.

Jan M et al.

Blood Advances, 2019

31324640 (PubMed )
Supplement: baadv2019000445-suppl6.xlsx › Recurrent_Mutations_in_MN

Revisiting CLEC12A as leukaemic stem cell marker in AML: highlighting the necessity of precision diagnostics in patients eligible for targeted therapy.

Bill M et al.

British Journal of Haematology, 2019

Perspectives on RUNX genes: an update.

Cohen MM

American Journal of Medical Genetics. Part A, 2009

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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."