Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.P339H
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CYBB

NM_000397.4:p.P339H

Associated Papers

The Indicine X-linked CYBBL237M Mutation Can Suppress Intracellular Infection with Tubercle Bacilli.

Wang H et al.

Genomics, Proteomics & Bioinformatics, 2025

NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome.

Monjarret B et al.

The Journal of Allergy and Clinical Immunology, 2023

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

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

Blancas-Galicia L et al.

Journal of Clinical Immunology, 2020

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

Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.

Wu J et al.

Journal of Immunology Research, 2017

Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Gal M et al.

Bmc Medical Genomics, 2016

Monocyte/macrophage-specific NADPH oxidase contributes to antimicrobial host defense in X-CGD.

Okura Y et al.

Journal of Clinical Immunology, 2015

Identification of NOX2 regions for normal biosynthesis of cytochrome b558 in phagocytes highlighting essential residues for p22phox binding.

Beaumel S et al.

The Biochemical Journal, 2014

Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.

Hill HR et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

[Chronic granulomatous disease (CGD)].

Shibata A

Ryoikibetsu Shokogun Shirizu, 1998

[Chronic granulomatous disease (CGD)].

Takikawa K et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1977

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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."