Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.C416Y
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CBL

NM_005188.4:p.C416Y

Associated Papers

How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.

Hidalgo-Gómez G et al.

Annals of Hematology, 2025

39843811 (PubMed )
Supplement: 277_2024_6151_MOESM1_ESM.xlsx › S1._Genetics_data

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

Impact of cytotoxic therapy on clonal hematopoiesis and myeloid neoplasms in breast cancer patients.

Kim H et al.

Medicine, 2024

39560556 (PubMed )
Supplement: medi-103-e40540-s001.xlsx › Table_S1

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2

A microglia clonal inflammatory disorder in Alzheimer's Disease.

Vicario R et al.

Biorxiv : the Preprint Server for Biology, 2024

Clinical and molecular features of CBL-mutated juvenile myelomonocytic leukemia.

Yoshida T et al.

Haematologica, 2023

37226702 (PubMed )
Supplement: 2022_282385_YOSHIDA_SUPPL_TABS2.xlsx › Sheet1

COMPASS: joint copy number and mutation phylogeny reconstruction from amplicon single-cell sequencing data.

Sollier E et al.

Nature Communications, 2023

37582954 (PubMed )
Supplement: 41467_2023_40378_MOESM1_ESM.pdf

Mutational Profile Enables the Identification of a High-Risk Subgroup in Myelodysplastic Syndromes with Isolated Trisomy 8.

Toribio-Castelló S et al.

Cancers, 2023

37568638 (PubMed )
Supplement: cancers-15-03822-s001.zip › Supplementary_tables.xlsx › Table_S2

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST4

Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.

Venable ER et al.

American Journal of Clinical Pathology, 2021

33978189 (PubMed )
Supplement: aqab010_suppl_supplementary_materials.docx

Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.

Vantyghem S et al.

Haematologica, 2021

Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.

Morita K et al.

Nature Communications, 2020

33087716 (PubMed )
Supplement: 41467_2020_19119_MOESM4_ESM.xlsx › Sheet1__2_

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

Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays.

Coombs CC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Mutational profiling of isolated myeloid sarcomas and utility of serum 2HG as biomarker of IDH1/2 mutations.

Willekens C et al.

Leukemia, 2018

Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.

Bartels S et al.

Oncotarget, 2016

27029036 (PubMed )
Supplement: oncotarget-07-30084-s002.xlsx › Table_S5

CBL mutations in juvenile myelomonocytic leukemia and pediatric myelodysplastic syndrome.

Shiba N et al.

Leukemia, 2010

MSK1 activation in acute myeloid leukemia cells with FLT3 mutations.

Odgerel T et al.

Leukemia, 2010

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