Varaico: Literature-Extracted Genetic Variants

Gene:NCF2
Variant:p.R102*
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NCF2

NM_000433.4:p.R102*

Associated Papers

Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.

Dong L et al.

Italian Journal of Pediatrics, 2024

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

Wolach B et al.

Blood, 2024

Clinical and molecular significance of flow cytometric analysis for reactive oxygen species production and residual p67phox expression in p67phox-deficient chronic granulomatous disease.

Miyazawa H et al.

Scandinavian Journal of Immunology, 2024

Monogenic inborn errors of immunity in autoimmune disorders.

Venkatachari IV et al.

Immunologic Research, 2023

[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases.]

Peñafiel-Vicuña AK et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Bacillus Calmette-Guérin (BCG) Infections at High Frequency in Both AR-CGD and X-CGD Patients Following BCG Vaccination.

Ishikawa T et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2021

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.

Akar HT et al.

Journal of Clinical Immunology, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

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

Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.

Gao LW et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Genetic and Clinical Profiles of Disseminated Bacillus Calmette-Guérin Disease and Chronic Granulomatous Disease in China.

Li T et al.

Frontiers in 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

Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox.

Roos D et al.

Journal of Clinical & Cellular Immunology, 2014

Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox.

Badalzadeh M et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2012

Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.

Köker MY et al.

European Journal of Clinical Investigation, 2009

Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients.

Wolach B et al.

Clinical Immunology (orlando, Fla.), 2008

Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.

Yu G et al.

Clinical Immunology (orlando, Fla.), 2008

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran.

Mortaz E et al.

International Archives of Allergy and Immunology, 0

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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."