Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.L195P
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CD40LG

NM_000074.3:p.L195P

Associated Papers

Inherited and acquired clinical phenotypes associated with neuroendocrine tumors.

Nicolaides RE et al.

Current Opinion in Allergy and Clinical Immunology, 2017

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

CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance.

Hervé M et al.

The Journal of Experimental Medicine, 2007

The structural basis of hyper IgM deficiency - CD40L mutations.

Thusberg J et al.

Protein Engineering, Design & Selection : Peds, 2007

Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.

Item C et al.

Pediatric Research, 2002

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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."