Varaico: Literature-Extracted Genetic Variants

Gene:CD27
Variant:p.R78W
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CD27

NM_001242.5:p.R78W

Associated Papers

Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in CD27.

Yang R et al.

Biorxiv : the Preprint Server for Biology, 2026

Structural delineation and phase-dependent activation of the costimulatory CD27:CD70 complex.

Liu W et al.

The Journal of Biological Chemistry, 2021

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Ghosh S et al.

Blood, 2020

Novel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease.

Kishore R et al.

Bmj Case Reports, 2020

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.

Alkhairy OK et al.

The Journal of Allergy and Clinical Immunology, 2015

Utility of next generation sequencing in clinical primary immunodeficiencies.

Raje N et al.

Current Allergy and Asthma Reports, 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."