Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.F238delFs
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CD40LG

NM_000074.3:p.F238delFs

Associated Papers

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.

Guo M et al.

Immunogenetics, 2024

A Novel CD40L Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family.

Li L et al.

Immunological Investigations, 2020

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

Du X et al.

Scandinavian Journal of Immunology, 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."