Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.R162fs
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RUNX1

NM_001754.5:p.R162fs

Associated Papers

Risk prediction for clonal cytopenia: multicenter real-world evidence.

Xie Z et al.

Blood, 2024

38996210 (PubMed )
Supplement: BLOOD_BLD-2024-024756-mmc1.pdf

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data

Analysis of rare driving events in pediatric acute myeloid leukemia.

Noort S et al.

Haematologica, 2023

35899387 (PubMed )
Supplement: 2021_280250_NOORT_SUPPL.pdf

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

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.

Wu D et al.

Haematologica, 2020

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

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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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."