Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.V124M
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TNFRSF1A

NM_001065.4:p.V124M

Associated Papers

Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.

Yilmaz Tekinhatun H et al.

Immunologic Research, 2025

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK10

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.

Di Ciaula A et al.

European Journal of Internal Medicine, 2023

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.

Delaleu J et al.

Rheumatology (oxford, England), 2021

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

Cudrici C et al.

International Journal of Molecular Sciences, 2020

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.

Gaggiano C et al.

Mediators of Inflammation, 2020

The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Lachmann HJ et al.

Annals of the Rheumatic Diseases, 2014

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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."