Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K52_I53Splc
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CD40LG

NM_000074.3:p.K52_I53Splc

Associated Papers

Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.

Anh PNL et al.

Orphanet Journal of Rare Diseases, 2026

CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.

Phan ANL et al.

Molecular Genetics & Genomic Medicine, 2021

Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience.

Al-Saud B et al.

Pediatric Transplantation, 2015

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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."