Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.D6N
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RUNX1

NM_001001890.3:p.D6N

Associated Papers

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S13

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-mmc1.pdf

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.12

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

CSF3R Mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia.

Zhang Y et al.

Cancer, 2018

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."