Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.V430M
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CBL

NM_005188.4:p.V430M

Associated Papers

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM11_ESM.xlsx › historical_growth

Prediction of acute myeloid leukaemia risk in healthy individuals.

Abelson S et al.

Nature, 2018

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Lindqvist CM et al.

Oncotarget, 2016

27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations

Balancing Protein Stability and Activity in Cancer: A New Approach for Identifying Driver Mutations Affecting CBL Ubiquitin Ligase Activation.

Li M et al.

Cancer Research, 2016

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

Activating CBL mutations are associated with a distinct MDS/MPN phenotype.

Schwaab J et al.

Annals of Hematology, 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."