Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.L231S
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CD40LG

NM_000074.3:p.L231S

Associated Papers

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

Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.

Aghamohammadi A et al.

Journal of Clinical Immunology, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience.

Tomizawa D et al.

American Journal of Hematology, 2004

Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.

Seyama K et al.

Blood, 1998

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

Nonoyama S et al.

Human Genetics, 1997

Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction.

Bajorath J et al.

Biochemistry, 1995

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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."