Varaico: Literature-Extracted Genetic Variants

Gene:CBLC
Variant:p.E392K
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CBLC

NM_012116.4:p.E392K

Associated Papers

Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort.

De Lucca RMR et al.

Exploration of Targeted Anti-tumor Therapy, 2025

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Fierheller CT et al.

Genes, 2023

36833203 (PubMed )
Supplement: genes-14-00277-s001.zip › 09.11.22_Supplementary_tables_v9.xlsx › 3

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › HR-deficient_PALB2_mutant

CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2.

Aranaz P et al.

Haematologica, 2012

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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."