Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.A84A
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CYBB

NM_000397.4:p.A84A

Associated Papers

Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.

Liao YX et al.

Journal of Clinical Immunology, 2025

Clinical Features of Female Taiwanese Carriers with X-linked Chronic Granulomatous Disease from 2004 to 2019.

Wu CY et al.

Journal of Clinical Immunology, 2021

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.

Bakri FG et al.

Frontiers in Immunology, 2021

Pneumonia and empyema caused by Methylobacterium in a patient with X-linked chronic granulomatous disease.

Lin SC et al.

Pediatrics and Neonatology, 2019

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Kannengiesser C et al.

Human Mutation, 2008

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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."