Varaico: Literature-Extracted Genetic Variants

Gene:CD19
Variant:p.P488delFs
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CD19

NM_001770.6:p.P488delFs

Associated Papers

A novel homozygous frameshift mutation likely causing nonsense-mediated mRNA decay in an Algerian kindred with CD19 complex deficiency.

Belaid B et al.

Frontiers in Immunology, 2025

Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.

Li W et al.

Journal of Clinical Immunology, 2023

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

Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency.

Vince N et al.

The Journal of Allergy and Clinical Immunology, 2011

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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."