Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.C396G
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CBL

NM_005188.4:p.C396G

Associated Papers

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

Transient immune deficiency accompanied with homozygous CBL rare variant.

Morishita A et al.

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

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 › ST2

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

Modeling CBL activating mutations in vivo.

Lee SC et al.

Blood, 2017

Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.

Grand FH et al.

Blood, 2009

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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."