Varaico: Literature-Extracted Genetic Variants

Gene:CD247
Variant:p.M1T
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CD247

NM_198053.3:p.M1T

Associated Papers

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

Briones AC et al.

Journal of Clinical Immunology, 2025

Five Patients With Two Novel Homozygous Variants in CD3 Subunits and Comprehensive Review of the Literature.

Sonmez G et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.

Walsh ZH et al.

Nature Biotechnology, 2025

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Watanabe N et al.

Journal of Leukocyte Biology, 2021

Analysis of the recovery of CD247 expression in a PID patient: insights into the spontaneous repair of defective genes.

Blázquez-Moreno A et al.

Blood, 2017

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

Marin AV et al.

The Journal of Allergy and Clinical Immunology, 2017

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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."