Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.V126D
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CD40LG

NM_000074.3:p.V126D

Associated Papers

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

Du X et al.

Scandinavian Journal of Immunology, 2019

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

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

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

Rangel-Santos A et al.

Scandinavian Journal of Immunology, 2009

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 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."