Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.E225Splc
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CYBB

NM_000397.4:p.E225Splc

Associated Papers

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

Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.

Rawat A et al.

Frontiers in Immunology, 2021

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

Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.

Vignesh P et al.

Journal of Clinical Immunology, 2019

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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."