Varaico: Literature-Extracted Genetic Variants

Gene:CD3G
Variant:p.K71delFs
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CD3G

NM_000073.3:p.K71delFs

Associated Papers

Establishment and characterization of a novel sinonasal adenosquamous carcinoma cell line, TC717, with a high tumor mutational burden.

Kuga R et al.

Human Cell, 2026

Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.

Natoli V et al.

Current Rheumatology Reports, 2025

Whole-Exome Sequencing Reveals Rare Genetic Variants in Saudi COVID-19 Patients with Extreme Phenotypes.

Mir R et al.

Viruses, 2025

[A case of CD3γ deficiency with recurrent thrombocytopenia].

Zhou Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024

A CD3G homozygous pathogenic variant in a Chinese child with lupus-like disease, autoimmune thyroiditis and immunodeficiency.

Lin H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1

Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.

Chen C et al.

Diagnostic Pathology, 2021

34895266 (PubMed )
Supplement: 13000_2021_1173_MOESM1_ESM.xlsx › ST1

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

Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors.

Chmielecki J et al.

Nature Genetics, 2013

23313954 (PubMed )
Supplement: NIHMS474988-supplement-1.pdf
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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."