Varaico: Literature-Extracted Genetic Variants

Gene:CR2
Variant:p.E409Splc
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CR2

NM_001006658.3:p.E409Splc

Associated Papers

CD21 deficiency in 2 siblings and frequency of the associated mutation in the Danish population.

Haunstrup TM et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus.

Tang Y et al.

Archives of Rheumatology, 2022

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

de Valles-Ibáñez G et al.

Frontiers in Immunology, 2018

29867916 (PubMed )
Supplement: data_sheet_1.PDF

Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder.

Keller MD et al.

The Journal of Allergy and Clinical Immunology, 2016

CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities.

Wentink MW et al.

Clinical Immunology (orlando, Fla.), 2015

New facets of antibody deficiencies.

Liadaki K et al.

Current Opinion in Immunology, 2013

Genetic CD21 deficiency is associated with hypogammaglobulinemia.

Thiel J et al.

The Journal of Allergy and Clinical Immunology, 2012

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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."