Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K52K
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CD40LG

NM_000074.3:p.K52K

Associated Papers

Disseminated Cryptococcosis in a Patient with CD40 Ligand Deficiency.

Françoise U et al.

Journal of Clinical Immunology, 2022

Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene.

Huang S et al.

Journal of Assisted Reproduction and Genetics, 2020

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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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."