Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.C419F
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CBL

NM_005188.4:p.C419F

Associated Papers

Single-cell DNA sequencing reveals pervasive positive selection throughout preleukemic evolution.

Poon G et al.

Cell Genomics, 2025

39842433 (PubMed )
Supplement: mmc1.pdf

Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.

Guijarro F et al.

International Journal of Molecular Sciences, 2024

39201354 (PubMed )
Supplement: ijms-25-08669-s001.zip › ijms-3087068-supplementary › Supplementary_Tables_S1-S5.xlsx › Table_S1

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.

Schwab C et al.

Leukemia, 2023

36550215 (PubMed )
Supplement: 41375_2022_1799_MOESM1_ESM.pdf

Transient immune deficiency accompanied with homozygous CBL rare variant.

Morishita A et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2023

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S6.xlsx › High_Confidence_SNVs

Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia.

Hecht A et al.

Haematologica, 2022

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