Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.F31delFs
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CD40LG

NM_000074.3:p.F31delFs

Associated Papers

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

Genetic Analysis of Patients with Two Different Types of Hyper IgM Syndrome.

Alizadeh Z et al.

Immunological Investigations, 2018

Clinical, molecular, and T cell subset analyses in a small cohort of Chinese patients with hyper-IgM syndrome type 1.

Tang WJ et al.

Human Immunology, 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."