Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.Q77L
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TNFRSF1A

NM_001065.4:p.Q77L

Associated Papers

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

Monogenic autoinflammatory diseases: concept and clinical manifestations.

Almeida de Jesus A et al.

Clinical Immunology (orlando, Fla.), 2013

An international registry on autoinflammatory diseases: the Eurofever experience.

Toplak N et al.

Annals of the Rheumatic Diseases, 2012

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.

Smith EJ et al.

Current Genomics, 2010

Dysregulation of innate immunity: hereditary periodic fever syndromes.

Bodar EJ et al.

British Journal of Haematology, 2009

Familial autoinflammatory diseases: genetics, pathogenesis and treatment.

Stojanov S et al.

Current Opinion in Rheumatology, 2005

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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."