Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.W408R
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CBL

NM_005188.4:p.W408R

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Reynolds G et al.

International Journal of Molecular Sciences, 2025

The immune response-related genomic alterations in patients with malignant melanoma.

Li L et al.

Medicine, 2024

38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

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

Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic.

Wang Y et al.

Frontiers in Immunology, 2023

Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Liu B et al.

Cancer Medicine, 2022

35393784 (PubMed )
Supplement: CAM4-11-2767-s001.xlsx › Table_S2

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM12_ESM.xlsx › MDS

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

Genomic landscape of platinum resistant and sensitive testicular cancers.

Loveday C et al.

Nature Communications, 2020

32366847 (PubMed )
Supplement: 41467_2020_15768_MOESM7_ESM.xlsx › Supplementary_Data_4

Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Yi Z et al.

Npj Breast Cancer, 2020

33145402 (PubMed )
Supplement: 41523_2020_201_MOESM2_ESM.xlsx › Supplementary_Table_1

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

Clonal architecture of chronic myelomonocytic leukemias.

Itzykson R et al.

Blood, 2013

Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia.

Saito Y et al.

Leukemia Research, 2012

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

Niemeyer CM et al.

Nature Genetics, 2010

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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."