Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.H125Y
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CD40LG

NM_000074.3:p.H125Y

Associated Papers

Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.

Du X et al.

Scandinavian Journal of Immunology, 2019

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Gallo V et al.

Frontiers in Immunology, 2016

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

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

Vargas-Hernández A et al.

Clinical Genetics, 2013

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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."