Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.P417A
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CBL

NM_005188.4:p.P417A

Associated Papers

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Bohlen J et al.

The Journal of Clinical Investigation, 2024

Transient immune deficiency accompanied with homozygous CBL rare variant.

Morishita A et al.

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

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S3

Modeling CBL activating mutations in vivo.

Lee SC et al.

Blood, 2017

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

Kales SC et al.

Cancer Research, 2010

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."