Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.Q246*
Back to variants list

CYBB

NM_000397.4:p.Q246*

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

Genetically confirmed chronic granulomatous disease in a Kenyan child: case report.

Marangu-Boore D et al.

Frontiers in Immunology, 2023

Thymosin β4 promotes autophagy and repair via HIF-1α stabilization in chronic granulomatous disease.

Renga G et al.

Life Science Alliance, 2019

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

Noncanonical Fungal Autophagy Inhibits Inflammation in Response to IFN-γ via DAPK1.

Oikonomou V et al.

Cell Host & Microbe, 2016

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

Kannengiesser C et al.

Human Mutation, 2008

Mutations of chronic granulomatous disease in Turkish families.

Köker MY et al.

European Journal of Clinical Investigation, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."