Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.W140C
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CD40LG

NM_000074.3:p.W140C

Associated Papers

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

França TT et al.

Journal of Clinical Immunology, 2022

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.

Cabral-Marques O et al.

Journal of Clinical Immunology, 2014

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

Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.

Cabral-Marques O et al.

Journal of Clinical Immunology, 2012

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

Hyper-IgM syndrome: a case report.

Wang IJ et al.

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

Highly multiplexed genotyping of coronary artery disease-associated SNPs using MALDI-TOF mass spectrometry.

Nakai K et al.

Human Mutation, 2002

Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.

Nonoyama S et al.

Human Genetics, 1997

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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."