Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.C102W
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TNFRSF1A

NM_001065.4:p.C102W

Associated Papers

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

Molecular and clinical spectrum of four pedigrees of TRAPS in Greece: results from a national referral center.

Nezos A et al.

Rheumatology (oxford, England), 2020

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

Cudrici C et al.

International Journal of Molecular Sciences, 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

Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.

Touitou I

Journal of Medical Genetics, 2013

Tumor necrosis factor receptor-associated periodic syndrome as a cause of recurrent abdominal pain in identical twins and description of a novel mutation of the TNFRSF1A gene.

Lee RU et al.

Journal of Pediatric Gastroenterology and Nutrition, 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."