Varaico: Literature-Extracted Genetic Variants

Gene:TNF
Variant:p.E129G
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TNF

NM_000594.4:p.E129G

Associated Papers

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals.

Garber E et al.

The Journal of Biological Chemistry, 1999

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

Seyama K et al.

Blood, 1998

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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."