Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.K90_V91Splc
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RUNX1

NM_001001890.3:p.K90_V91Splc

Associated Papers

Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.

Geng H et al.

Blood Advances, 2025

39536287 (PubMed )
Supplement: BLOODA_ADV-2024-014460-mmc1.pdf

Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Ernst MPT et al.

Hemasphere, 2025

39822584 (PubMed )
Supplement: HEM3-9-e70057-s001.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

Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.

Perani A et al.

Frontiers in Oncology, 2023

36923434 (PubMed )
Supplement: DataSheet_1.zip › Data_Sheet_1 › Table_S2.xlsx › 1_Patients

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

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.

Almazni I et al.

Human Mutation, 2020

Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.

Perez Botero J et al.

Leukemia & Lymphoma, 2017

Gene of the issue: RUNX1 mutations and inherited bleeding.

Morgan NV et al.

Platelets, 2017

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Johnson B et al.

Haematologica, 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."