Varaico: Literature-Extracted Genetic Variants

Gene:CD247
Variant:p.Q70*
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CD247

NM_198053.3:p.Q70*

Associated Papers

Discordant Restoration of TCR Expression and Function by CD247 Somatic Reversions.

Briones AC et al.

Journal of Clinical Immunology, 2025

Nonsense CD247 mutations show dominant-negative features in T-cell receptor expression and function.

Briones AC et al.

The Journal of Allergy and Clinical Immunology, 2024

Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.

Marin AV et al.

The Journal of Allergy and Clinical Immunology, 2017

[Expression anomalies of the CD3-TCR complex expression and immunodeficiencies].

Le Deist F et al.

Medecine Sciences : M/s, 2007

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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."