Varaico: Literature-Extracted Genetic Variants

Gene:CSF3R
Variant:p.Q739*
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CSF3R

NM_000760.4:p.Q739*

Associated Papers

Impact of CSF3R Mutations on Leukemic Transformation in Severe Congenital Neutropenia: A Retrospective Analysis From the Italian Neutropenia Registry.

Pegoraro F et al.

American Journal of Hematology, 2026

Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies.

Elbaz Younes I et al.

Cancers, 2025

Chronic neutrophilic leukemia and atypical chronic myeloid leukemia: 2024 update on diagnosis, genetics, risk stratification, and management.

Szuber N et al.

American Journal of Hematology, 2024

A novel colony stimulating factor 3 receptor activating mutation identified in a patient with chronic neutrophilic leukemia.

Maniaci BN et al.

Haematologica, 2023

Truncated CSF3 receptors induce pro-inflammatory responses in severe congenital neutropenia.

Olofsen PA et al.

British Journal of Haematology, 2023

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Absence of FGFR3-TACC3 rearrangement in hematological malignancies with numerical chromosomal alteration.

Banella C et al.

Hematology/oncology and Stem Cell Therapy, 2021

G-CSF, the guardian of granulopoiesis.

Mehta HM et al.

Seminars in Immunology, 2021

Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.

Trottier AM et al.

Blood Advances, 2020

Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia.

Klimiankou M et al.

Frontiers in Immunology, 2019

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

Zhang Y et al.

Cancer, 2018

Targeting few to help hundreds: JAK, MAPK and ROCK pathways as druggable targets in atypical chronic myeloid leukemia.

Rocca S et al.

Molecular Cancer, 2018

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM7_ESM.xlsx › Sup._T4_-_TSCA_rgt

De novo CSF3R mutation associated with transformation of myeloproliferative neoplasm to atypical CML.

Bartels S et al.

Annals of Hematology, 2015

Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML.

Maxson JE et al.

The New England Journal of Medicine, 2013

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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."