Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.L370_Y371del1
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CBL

NM_005188.4:p.L370_Y371del1

Associated Papers

Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.

Jeong Y

Leukemia & Lymphoma, 2025

39819262 (PubMed )
Supplement: supplement_1.pdf

Long-term remission of infantile Takayasu arteritis associated with germline CBL syndrome after allogeneic hematopoietic stem cell transplantation: A case report and literature review.

Munoz-Osores E et al.

Transplant Immunology, 2024

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.

Hong Y et al.

Neurology. Genetics, 2020

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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."