Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.Y49D
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TNFRSF1A

NM_001065.4:p.Y49D

Associated Papers

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

Cudrici C et al.

International Journal of Molecular Sciences, 2020

Overlap of familial Mediterranean fever and hyper-IgD syndrome in an Arabic kindred.

Moussa T et al.

Journal of Clinical Immunology, 2015

Clinical and genetic profile of children with periodic fever syndromes from a single medical center in South East Michigan.

Chandrakasan S et al.

Journal of Clinical Immunology, 2014

Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q.

Stojanov S et al.

Rheumatology (oxford, England), 2004

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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."