Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.C404R
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CBL

NM_005188.4:p.C404R

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

Presence of Myeloid Mutations in Patients with Chronic Myeloid Leukemia Increases Risk of Cardiovascular Event on Tyrosine Kinase Inhibitor Treatment.

Stuckey R et al.

Cancers, 2023

37444494 (PubMed )
Supplement: cancers-15-03384-s001.zip › cancers-2437181-supplementary.pdf

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

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

Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review.

Cardoso L et al.

Clinical Case Reports, 2021

Disease burden and conditioning regimens in ASCT1221, a randomized phase II trial in children with juvenile myelomonocytic leukemia: A Children's Oncology Group study.

Dvorak CC et al.

Pediatric Blood & Cancer, 2018

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Martinelli S et al.

Human Mutation, 2015

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Bülow L et al.

American Journal of Medical Genetics. Part A, 2015

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Niemeyer CM et al.

Nature Genetics, 2010

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

Loh ML 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."