Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Y169N
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CD40LG

NM_000074.3:p.Y169N

Associated Papers

X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.

Tsai HY et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2015

Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.

Hirbod-Mobarakeh A et al.

Expert Review of Clinical Immunology, 2014

Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype.

Lee WI et al.

The Pediatric Infectious Disease Journal, 2013

Hyper-IgM syndrome: a case report.

Wang IJ et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2003

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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."