Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.C102Y
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TNFRSF1A

NM_001065.4:p.C102Y

Associated Papers

Diagnosis and Management of a Young Girl With Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) Linked to a Novel Mutation.

Klinaki E et al.

Cureus, 2020

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

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

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."