Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Y45*
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CD40LG

NM_000074.3:p.Y45*

Associated Papers

A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.

Akarsu A et al.

Scandinavian Journal of Immunology, 2022

Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper-IgM syndrome.

Vavassori V et al.

Embo Molecular Medicine, 2021

Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction.

Bajorath J et al.

Biochemistry, 1995

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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."