Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Q186*
Back to variants list

CD40LG

NM_000074.3:p.Q186*

Associated Papers

The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.

Halacli SO

Immunologic Research, 2022

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

Li L et al.

Immunological Investigations, 2020

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

Alizadeh Z et al.

Immunological Investigations, 2018

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA et al.

Journal of Clinical Immunology, 2016

Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China.

An Y et al.

Scandinavian Journal of Immunology, 2010

CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand.

Seyama K 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."