Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K52_I53Splc
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CD40LG

NM_000074.3:p.K52_I53Splc

Associated Papers

Role of RNA Alternative Splicing in T Cell Function and Disease.

Banerjee S et al.

Genes, 2023

37895245 (PubMed )
Supplement: genes-14-01896-s001.zip › Supplementary_Table.xlsx › Supplementary_Table

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

Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.

Aghamohammadi A et al.

Journal of Clinical Immunology, 2009

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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."