Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.I248delFs
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CYBB

NM_000397.4:p.I248delFs

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

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

A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017).

Zhou Q et al.

Journal of Clinical Immunology, 2018

Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.

Ko SH et al.

Immunological Investigations, 2014

Prenatal diagnosis of X-linked chronic granulomatous disease by percutaneous umbilical blood sampling.

Sun J et al.

Scandinavian Journal of Immunology, 2012

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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."