Varaico: Literature-Extracted Genetic Variants

Gene:CD40LG
Variant:p.Y169C
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CD40LG

NM_000074.3:p.Y169C

Associated Papers

Acquired Renal Amyloidosis in a Patient With X-Linked Hyper-IgM Immunodeficiency With Novel Hemizygotic Pathogenic Variant in CD40LG Gene.

Celis-Giraldo D et al.

Case Reports in Nephrology, 2025

Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation.

Gong X et al.

Bmc Medical Genomics, 2022

Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.

Al Farsi T et al.

Frontiers in Immunology, 2022

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India.

Madkaikar M et al.

Blood Cells, Molecules & Diseases, 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."