Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.E336*
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CYBB

NM_000397.4:p.E336*

Associated Papers

Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort.

Wolach B et al.

Blood, 2024

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

Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent.

Chiriaco M et al.

Clinical Immunology (orlando, Fla.), 2018

Inflammatory bowel disease in chronic granulomatous disease: An emerging problem over a twenty years' experience.

Angelino G et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2017

Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.

Di Matteo G et al.

Molecular Immunology, 2009

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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."