Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.H47Y
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CD40LG

NM_000074.3:p.H47Y

Associated Papers

Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.

Du X et al.

Scandinavian Journal of Immunology, 2019

A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity.

Günaydin NC et al.

Clinical Immunology (orlando, Fla.), 2014

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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."