Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF13B
Variant:p.D191insFs
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TNFRSF13B

NM_012452.3:p.D191insFs

Associated Papers

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

Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor.

Sathkumara HD et al.

International Journal of Immunogenetics, 2015

CVID-associated TACI mutations affect autoreactive B cell selection and activation.

Romberg N et al.

The Journal of Clinical Investigation, 2013

The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice.

Bacchelli C et al.

The Journal of Allergy and Clinical Immunology, 2011

Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency.

Mohammadi J et al.

Journal of Clinical Immunology, 2009

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.

Salzer U et al.

Blood, 2009

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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."