Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.R91*
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CYBB

NM_000397.4:p.R91*

Associated Papers

Optimizing the diagnosis of chronic granulomatous disease using dihydrorhodamine-123 assay: Lessons from a large monocentric cohort.

Oiuna L et al.

Cytometry. Part B, Clinical Cytometry, 2026

Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.

Abd Elaziz D et al.

Journal of 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

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

An adult case of X-linked chronic granulomatous disease with skin ulcer on the nose and internal canthus.

Inoue-Masuda Y et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

Lentiviral gene therapy for X-linked chronic granulomatous disease.

Kohn DB et al.

Nature Medicine, 2020

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.

Teimourian S et al.

Journal of Pediatric Hematology/oncology, 2018

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

Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.

El Hawary R et al.

Journal of Clinical Immunology, 2016

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

27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous disease.

Vilaiphan P et al.

Asian Pacific Journal of Allergy and Immunology, 2007

Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.

Roos D et al.

Human Mutation, 2006

Successful umbilical cord blood stem cell transplantation for chronic granulomatous disease.

Bhattacharya A et al.

Bone Marrow Transplantation, 2003

Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox.

Patiño PJ et al.

Human Mutation, 1999

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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."