Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.C381G
Back to variants list

CBL

NM_005188.4:p.C381G

Associated Papers

CBL syndrome presenting with severe EBV infection and panuveitis masquerade.

Abramowicz S et al.

European Journal of Ophthalmology, 2025

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

Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype.

Fardeau C et al.

International Journal of Molecular Sciences, 2022

Casitas B-lineage lymphoma mutation retinopathy mimicking uveitis.

Fardeau C et al.

Clinical & Experimental Ophthalmology, 2021

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

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Martinelli S et al.

Human Mutation, 2015

In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.

Strullu M et al.

Leukemia, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."