Varaico: Literature-Extracted Genetic Variants

Gene:CD19
Variant:p.A316Splc
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CD19

NM_001770.6:p.A316Splc

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

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

Misdiagnosed CD19 deficiency leads to severe lung disease.

Skendros P et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2014

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.

van Zelm MC et al.

The Journal of Allergy and Clinical Immunology, 2014

Novel mutations in a Japanese patient with CD19 deficiency.

Kanegane H et al.

Genes and Immunity, 2007

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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."