Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.E202*
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CD40LG

NM_000074.3:p.E202*

Associated Papers

A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.

Akarsu A et al.

Scandinavian Journal of Immunology, 2022

Hematopoietic stem cell transplantation in CD40 ligand deficiency: A single-center experience.

Uygun DFK et al.

Pediatric Transplantation, 2020

Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.

Azarsiz E et al.

Journal of Clinical Immunology, 2011

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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."