Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.F253I
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CD40LG

NM_000074.3:p.F253I

Associated Papers

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

França TT et al.

Journal of Clinical Immunology, 2022

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

Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.

Danielian S et al.

Journal of Clinical Immunology, 2007

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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."