Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.I248fs
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CYBB

NM_000397.4:p.I248fs

Associated Papers

Clinical characteristics and genetic features of 35 cases of adverse reactions to Bacillus Calmette-Guérin vaccine in children.

Chen H et al.

Frontiers in Cellular and Infection Microbiology, 2025

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Janssen AEJ et al.

Nature Communications, 2024

39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.

Chiu TL et al.

Frontiers in Immunology, 2021

Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.

Quinn J et al.

Immunologic Research, 2020

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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."