Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.K52*
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CD40LG

NM_000074.3:p.K52*

Associated Papers

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

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

van Zelm MC et al.

The Journal of Allergy and Clinical Immunology, 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."