Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.C416R
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CBL

NM_005188.4:p.C416R

Associated Papers

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.

Vatovec T et al.

Nature Immunology, 2026

41540267 (PubMed )
Supplement: 41590_2025_2381_MOESM1_ESM.pdf

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

Detection and Interpretation of Clonal Hematopoiesis Variants during Routine Solid Tumor Next-Generation Sequencing: A Single-Institution Experience.

Menon A et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S1

The genetic evolution of acral melanoma.

Wang M et al.

Nature Communications, 2024

39034322 (PubMed )
Supplement: 41467_2024_50233_MOESM5_ESM.xlsx › Supplementary_Data_2

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy S et al.

British Journal of Haematology, 2024

The genetic evolution of acral melanoma.

Wang M et al.

Biorxiv : the Preprint Server for Biology, 2023

37904969 (PubMed )
Supplement: media-2.xlsx › Sheet1

RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.

Kim T et al.

Scientific Reports, 2020

33208771 (PubMed )
Supplement: 41598_2020_76933_MOESM8_ESM.xlsx › TableS5

The combination of FLT3 and SYK kinase inhibitors is toxic to leukaemia cells with CBL mutations.

Weisberg E et al.

Journal of Cellular and Molecular Medicine, 2020

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone

Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.

Schnittger S et al.

Haematologica, 2012

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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."