Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.G116Splc
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CD40LG

NM_000074.3:p.G116Splc

Associated Papers

Prolonged pediatric intensive care unit (PICU) admission, challenges in diagnosis and treatment in a child with hyper IgM syndrome in a tertiary hospital in Tanzania: a case report.

Shoo A et al.

The Pan African Medical Journal, 2024

CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report.

Xu HB et al.

Bmc Pediatrics, 2023

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA et al.

Journal of Clinical Immunology, 2016

Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.

Wang LL et al.

Journal of Immunology Research, 2014

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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."