Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.C384G
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CBL

NM_005188.4:p.C384G

Associated Papers

Transient immune deficiency accompanied with homozygous CBL rare variant.

Morishita A et al.

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

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

Hecht A et al.

Haematologica, 2022

Clonal hematopoiesis and risk of acute myeloid leukemia.

Young AL et al.

Haematologica, 2019

Cbl and human myeloid neoplasms: the Cbl oncogene comes of age.

Kales SC et al.

Cancer Research, 2010

Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

Sanada M et al.

Nature, 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."