Varaico: Literature-Extracted Genetic Variants

Gene:CBLB
Variant:p.H285L
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CBLB

NM_001321786.1:p.H285L

Associated Papers

Mechanisms of Cbl-Mediated Ubiquitination of Proteins in T and Natural Killer Cells and Effects on Immune Cell Functions.

Nath PR et al.

Life (basel, Switzerland), 2024

Immune dysregulation caused by homozygous mutations in CBLB.

Janssen E et al.

The Journal of Clinical Investigation, 2022

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

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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."