Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.L15V
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TNFRSF1A

NM_001065.4:p.L15V

Associated Papers

TRAP1 chaperone protein mutations and autoinflammation.

Standing AS et al.

Life Science Alliance, 2020

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R et al.

Orphanet Journal of Rare Diseases, 2017

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."