Varaico: Literature-Extracted Genetic Variants

Gene:CD3G
Variant:p.G27Splc
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CD3G

NM_000073.3:p.G27Splc

Associated Papers

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

A Novel CD3G Mutation in a Taiwanese Patient With Normal T Regulatory Function Presenting With the CVID Phenotype Free of Autoimmunity-Analysis of all Genotypes and Phenotypes.

Lee WI et al.

Frontiers in Immunology, 2019

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.

Rowe JH et al.

Blood, 2018

CD3G gene defects in familial autoimmune thyroiditis.

Gokturk B et al.

Scandinavian Journal of Immunology, 2014

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ et al.

The Journal of Allergy and Clinical Immunology, 2014

Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity.

Tokgoz H et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2013

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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."