Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Q220*
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CD40LG

NM_000074.3:p.Q220*

Associated Papers

CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.

França TT et al.

Journal of Clinical Immunology, 2022

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA et al.

Journal of Clinical Immunology, 2016

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 and genetic analysis of patients with X-linked hyper-IgM syndrome.

Vargas-Hernández A et al.

Clinical Genetics, 2013

Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis.

Jayoussi-Assalia R et al.

Prenatal Diagnosis, 2000

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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."