Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.H222R
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CYBB

NM_000397.4:p.H222R

Associated Papers

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

Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.

Wang S et al.

Journal of Clinical Immunology, 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

Successful Unrelated Cord Blood Stem Cell Transplantation in an X-linked Chronic Granulomatous Disease Patient with Disseminated BCG-induced Infection.

Lin CJ et al.

Pediatrics and Neonatology, 2015

Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.

Ko SH et al.

Immunological Investigations, 2014

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

Kannengiesser C et al.

Human Mutation, 2008

Heme-ligating histidines in flavocytochrome b(558): identification of specific histidines in gp91(phox).

Biberstine-Kinkade KJ et al.

The Journal of Biological Chemistry, 2001

[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."