Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Y172H
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CD40LG

NM_000074.3:p.Y172H

Associated Papers

Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.

Walsh ZH et al.

Nature Biotechnology, 2025

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.

Guo M et al.

Immunogenetics, 2024

Massively parallel base editing screens to map variant effects on anti-tumor hallmarks of primary human T cells.

Walsh ZH et al.

Biorxiv : the Preprint Server for Biology, 2023

Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.

Tengsujaritkul M et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.

Athipongarporn A et al.

The Pediatric Infectious Disease Journal, 2021

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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."