Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Y145D
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CD40LG

NM_000074.3:p.Y145D

Associated Papers

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

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

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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."