Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF9
Variant:p.G109S
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TNFRSF9

NM_001561.6:p.G109S

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis.

Zhao P et al.

Frontiers in Immunology, 2025

The unveiled face of IEI: Children Cancer Hospital-Egypt (CCHE-57357) experience.

Radwan N et al.

Frontiers in Immunology, 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

CD137 deficiency because of two novel biallelic TNFRSF9 mutations in a patient presenting with severe EBV-associated lymphoproliferative disease.

Shen K et al.

Clinical & Translational Immunology, 2023

Successful hematopoietic stem cell transplantation in a 4-1BB deficient patient with EBV-induced lymphoproliferation.

Wildermann C et al.

Clinical Immunology (orlando, Fla.), 2021

Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

Alosaimi MF et al.

The Journal of Allergy and Clinical Immunology, 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."