Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF9
Variant:p.G57delFs
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TNFRSF9

NM_001561.6:p.G57delFs

Associated Papers

Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity.

Alajlan H et al.

Journal of Clinical Immunology, 2025

Clinical and functional characterization of a novel TNFRSF9 variant causing immune dysregulation with predisposition to EBV-driven lymphomagenesis.

Zhao P et al.

Frontiers in Immunology, 2025

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells.

Rodriguez R et al.

The Journal of Experimental Medicine, 2019

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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."