Varaico: Literature-Extracted Genetic Variants

Gene:CD27
Variant:p.G158A
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CD27

NM_001242.5:p.G158A

Associated Papers

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

A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).

Riaz IB et al.

Frontiers in Immunology, 2019

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

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.

Salzer E et al.

Haematologica, 2013

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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."