Varaico: Literature-Extracted Genetic Variants

Gene:CD79A
Variant:p.Q127Splc
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CD79A

NM_001783.4:p.Q127Splc

Associated Papers

Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection.

Sil A et al.

Journal of Clinical Immunology, 2024

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation.

Langereis JD et al.

Journal of Clinical Immunology, 2018

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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."